Roshini S Abraham

Contact Information

Call us at: (614) 722-5329

Email Roshini S. Abraham, PhD

Clinical Pathology700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Roshini S. Abraham

Biography

Dr. Roshini S. Abraham received her PhD in Immunology in 1996, and completed post-doctoral fellowships in Immunology (1996-2000), and Clinical Immunology and Biochemistry (2000-2002) at the Mayo Clinic, Rochester, MN. She was on faculty at the Mayo Clinic in the Division of Hematology (Dept. of Medicine), Division of Allergic Diseases and Immunology, and the Division of Clinical Biochemistry and Immunology (Dept. of Laboratory Medicine and Pathology) from 2002-2018, and Professor of Medicine, and Laboratory Medicine and Pathology at the Mayo Clinic College of Medicine. Since September 2018, she has been on the faculty at Nationwide Children’s Hospital (NCH) in Columbus, Ohio, and is a Professor of Clinical Pathology at Ohio State University Wexner College of Medicine. She is the Associate Chief of Academic Affairs and the Founding Director of the Diagnostic Immunology Laboratory and Program at NCH. She is a diplomate of the American Board of Medical Laboratory Immunology (ABMLI), and a fellow of the American Academy of Allergy, Asthma and Immunology (FAAAAI) and the Clinical Immunology Society (FCIS). She is a Past President of the Clinical Immunology Society (CIS; 2017-2019). She is the Chair of the Document Development Committee of the Clinical Laboratory Standards Institute (CLSI) on Newborn Screening for Severe Combined Immunodeficiencies, Chair of the Immunology Special Interest Group for the American Society of Clinical Pathology Curriculum Education Research Special Advisory Committee (CER-SAC), Co-Chair of the Immunology Clinical Domain Working Group for ClinGen, and Co-Chair of the Antibody Deficiencies and Primary Immune Regulatory Disorders (PIRD) ClinGen Gene Curation Expert Panels. She is also a member of the Board of Scientific Counselors of the National Institutes of Health (NIH) Clinical Center, and an Associate Editor for Frontiers in Immunology. She has published 132 peer-reviewed articles, 22 book chapters and over 166 abstracts. Dr. Abraham’s research and clinical interests are in the area of diagnostic immunology (flow cytometry and genomics), and inborn errors of immunity, and transplant immunology, related to immune competence and immune reconstitution in solid organ and hematopoietic /bone marrow transplantation. She is the Director of the Diagnostic Immunology Laboratory in the Department of Pathology and Laboratory Medicine.

    “I am most interested in the diagnosis and treatment of complex immune disorders, and transplant immunology, and am committed to providing the most advanced and holistic care to these patients in collaboration with a multidisciplinary team.”

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Academic and Clinical Areas

Laboratory Services

Anatomic and Clinical Pathology Team

Primary Department

Clinical Pathology

Awards, Honors & Organizations

Fellow, Clinical Immunology Society (FCIS), 2021 Distinguished Service Award, Clinical Immunology Society, 2021 First Annual ClinGen Excellence Awards for ClinGen Significant Contributors, ClinGen, 2021 Carl R. Joliff Award for Lifetime Achievement in Clinical and Diagnostic Immunology, American Association of Clinical Chemistry (AACC), 2019 Fellow, American Academy of Allergy, Asthma and Immunology (FAAAAI), 2010 Award for Outstanding Scientific Achievements by a Young Investigator, American Association for Clinical Chemistry (AACC), 2006 Doctorate Award, Association of Medical Laboratory Immunologists (AMLI), 2006 George Grannis Award for Excellence in Research and Scientific Publication, National Academy of Clinical Biochemistry (NACB), 2003 Co-Chair, ClinGen, Antibody Deficiencies Gene Curation Expert Panel, 2020 - Present Document Development Committee - On Newborn Screening for Severe Combined Immunodeficiencies Chair, Clinical Laboratory Standards Institute (CLSI), 2019 - Present Immunology Clinical Domain Working Group (CDWG) Co-chair, Clinical Genome Resource (ClinGen), 2019 - Present Past President, Clinical Immunology Society (CIS), 2019 - 2021 Program Co-Chair, CIS Annual Diagnostic Primary Immunodeficiency, 2018 - Present Member, NIH Clinical Center Board of Scientific Counselors, 2018 - Present Member, College of American Pathology, Diagnostic Immunology Resource Committee (CAP-DIFCC), 2018 - Present Curriculum, Educational Resource Scientific Committee (CER-SAC), Chair, Immunology Specialist Group, American Society of Clinical Pathology (ASCP), 2018 - Present Program Co-Chair, CIS-AAAAAI Diagnostic Primary Immunodeficiency School, 2018 - 2018 President, Clinical Immunology Society (CIS), 2017 - 2019 President-Elect, Clinical Immunology Society (CIS), 2016 - 2017 Program Chair, Clinical Immunology Society (CIS) School on Diagnostic Assessment of Immune phenotype and function in Primary Immunodeficiencies, 2014 - 2018 Member, Research Faculty, 2013 - Present Elected Councilor, Clinical Immunology Society (CIS), 2013 - 2016 Chairman, Credentials Committee Chairman, 2012 - 2017 Vice Chair, Clinical Laboratory Standards Institute (CLSI) Document Development Committee - On severe combined Immunodeficiencies, 2011 - 2013 Member, American Board of Medical Laboratory Immunologists (ABMLI), 2011 - 2017 Member, American Society of Transplantation (AST), 2010 - Present Member, International Clinical Cytometry Society (ICCS), 2010 - Present Member, International Society for Advancement of Cytometry (ISAC), 2010 - Present Member, Primary Immunodeficiency Subcommittee Working Group on Newborn Screening for Severe Combined Immunodeficiency (SCID), 2010 - 2012 Member, Exam Development Committee, 2010 - 2013 Co-Coordinator, Newborn Screening Translational Research Network (NBSTRN) and Region 4 Stork International Database for Severe Combined Immunodeficiency, 2010 - 2015 Director, Jeffrey Modell Foundation for Primary Immunodeficiencies, 2009 - Present Member, Credentials Committee, 2009 - 2012 Member, European Society for Immunodeficiencies (ESID), 2008 - Present Member, Young Diplomates Committee, 2008 - 2010 Member, American Academy of Allergy, Asthma and Immunology (AAAAI) Basic & Clinical Immunology (BCI) Section/Primary Immunodeficiency Diseases Committee, 2008 - 2011 Councilor, Association of Medical Laboratory Immunologists (AMLI), 2008 - 2011 Scientific Program Organizer, Association of Medical Laboratory Immunologists (AMLI), 2008 - 2019 Member, Examination Validation Committee, 2007 - 2010 Member, Sigma Xi, The Scientific Research Society Mayo Foundation Chapter Executive Committee, 2006 - 2008 Member, Association of Medical Laboratory Immunologists (AMLI), 2005 - Present Member, American Society of Hematology (ASH), 2005 - Present Member, Clinical Immunology Society (CIS), 2005 - Present Postdoctoral Fellowship, Juvenile Diabetes Foundation Research International, 1998 - 2000 Member, Sigma Xi, The Scientific Research Society Mayo Foundation Chapter, 1997 - 2013 Member, American Association of Immunologists (AAI), 1996 - Present Senior Research Fellowship, Government of India, Department of Biotechnology, 1993 - 1996 Junior Research Fellowship, Government of India - Department of Biotechnology, 1991 - 1993 Fellow, American Academy of Allergy, Asthma and Immunology (AAAAI) Member, Board of Scientific Counselors of the National Institutes of Health Clinical Center Associate Editor, Journal of Clinical Immunology (JOCI) Diplomate, American Board of Medical Laboratory Immunology (ABMLI)

Research

Dr. Abraham’s research and clinical interests are in the area of diagnostic immunology (flow cytometry and genomics), and inborn errors of immunity, and transplant immunology, related to immune competence and immune reconstitution in solid organ and hematopoietic /bone marrow transplantation. She is the Director of the Diagnostic Immunology Laboratory in the Department of Pathology and Laboratory Medicine. Publications

                  Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, CARMIL2 Consortium, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6; 220: 

                


                  Yonkof JR, Basu A, Redmond MT, Dobbs AK, Perelygina L, Notarangelo LD, Abraham RS, Rangarajan HG. Refractory, fatal autoimmune hemolytic anemia due to ineffective thymic-derived T-cell reconstitution following allogeneic hematopoietic cell transplantation for hypomorphic RAG1 deficiency. Pediatr Blood Cancer. 2022 Dec 30;  e30183.

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Blincoe A, Labrosse R, Abraham RS. Acquired B-cell deficiency secondary to B-cell-depleting therapies. J Immunol Methods. 2022 Nov 11; 511: 113385.

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Mar 28;  

                


                  Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Mar 26;  

                


                  Dimitriades VR, Freeman AF, Henrickson SE, Abraham RS. Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation. Front Pediatr. 2022; 10: 864734.

                


                  Chiarella SE, Jenkins SM, Park MA, Abraham RS, Joshi AY. Sex differences in antibody responses to the 23-valent pneumococcal polysaccharide vaccination. Ann Allergy Asthma Immunol. 2021 Oct; 127: 509-510.

                


                  Kraft MT, Pyle R, Dong X, Hagan JB, Varga E, van Hee M, Boyce TG, Pozos TC, Yilmaz-Demirdag Y, Bahna SL, Abraham RS. Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia. Clin Immunol. 2021 Aug; 229: 108788.

                


                  Cotsapas C, Saarela J, Farmer JR, Scaria V, Abraham RS. Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? J Clin Invest. 2021 Jul 15; 131: 

                


                  Kraft MT, Mehyar LS, Prince BT, Reshmi SC, Abraham RS, Abu-Arja R. Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1. J Clin Immunol. 2021 Jul; 41: 1089-1094.

                


                  Kahwash BM, Yonkof JR, Abraham RS, Mustillo PJ, Abu-Arja R, Rangarajan HG, Scherzer R. Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen. Pediatrics. 2021 Jun; 147: 

                


                  Park MA, Jenkins SM, Smith CY, Pyle RC, Sacco KA, Ryu E, Hagan JB, Joshi AY, Snyder MR, Abraham RS. Pneumococcal serotype-specific cut-offs based on antibody responses to pneumococcal polysaccharide vaccination in healthy adults. Vaccine. 2021 May 18; 39: 2850-2856.

                


                  Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. J Clin Immunol. 2021 May; 41: 795-806.

                


                  Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol. 2021 Mar 11;  

                


                  Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID). J Allergy Clin Immunol Pract. 2021 Feb; 9: 723-732.e3.

                


                  Abraham RS, Butte MJ. The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2021 Feb; 9: 613-625.

                


                  Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I. Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. J Infect Dis. 2021 Feb 24; 223: 645-654.

                


                  Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, IUIS Committee of Inborn Errors of Immunity., Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147: 520-531.

                


                  Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12: 796065.

                


                  Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD. POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development. J Clin Immunol. 2021 Jan; 41: 270-273.

                


                  Abraham RS. How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4; 2020: 661-672.

                


                  Abraham RS, Marshall JM, Kuehn HS, Rueda CM, Gibbs A, Guider W, Stewart C, Rosenzweig SD, Wang H, Jean S, Peeples M, King T, Hunt WG, Honegger JR, Ramilo O, Mustillo PJ, Mejias A, Ardura MI, Shimamura M. Severe SARS-CoV-2 Disease In The Context Of A NF?B2 Loss-Of-Function Pathogenic Variant. J Allergy Clin Immunol. 2020 Sep 29;  

                


                  Haddox CL, Carr RM, Abraham RS, Perez Botero J, Rodriguez V, Pardanani A, Patnaik MM. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. Leuk Lymphoma. 2019 Jun 27;  1-5.

                


                  Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 May 31;  

                


                  Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol. 2019 May 1; 78: 460-466.

                


                  Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kusnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Mar 12;  

                


                  Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. J Allergy Clin Immunol. 2019 Feb 6;  

                


                  Parker AR, Park MA, Harding S, Abraham RS. The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies. Vaccine. 2019 Feb 28; 37: 1350-1355.

                


                  Sheen YH, Kizilbash S, Ryoo E, Wi CI, Park M, Abraham RS, Ryu E, Divekar R, Juhn Y. Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination. J Asthma. 2019 Feb 20;  1-10.

                


                  Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019; 10: 777.

                


                  Hartog NL, Williams KW, Abraham RS. "The State of the Union": Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases. Front Immunol. 2019; 10: 1783.

                


                  Sridharan M, Go RS, Abraham RS, Fervenza FC, Sethi S, Bryant SC, Spears GM, Murray DL, Willrich MAV. Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome. Mayo Clin Proc. 2018 Oct; 93: 1351-1362.

                


                  Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M. Short telomere syndromes cause a primary T cell immunodeficiency. J Clin Invest. 2018 Oct 22;  

                


                  Borzutzky A, Rauter I, Fried A, Rachid R, McDonald DR, Hammarstrom L, Grimbacher B, Abraham RS, Geha RS. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018 Aug 23; 197: 40-44.

                


                  Meesing A, Abraham RS, Razonable RR. Clinical Correlation of Cytomegalovirus Infection with CMV-Specific CD8+ T Cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients. Transplantation. 2018 Aug 6;  

                


                  Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Blood Adv. 2018 Aug 14; 2: 1828-1832.

                


                  Rastogi N, Abraham RS, Chadha R, Thakkar D, Kohli S, Nivargi S, Prakash Yadav S. Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. J Pediatr Hematol Oncol. 2018 Aug; 40: e383-e388.

                


                  Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93: 834-839.

                


                  Perez Botero J, Ho TP, Hogan WJ, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, Chen D, Viswanatha D, Rodriguez V, Khan SP, Patnaik MM. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol. 2018 Jul; 182: 141-145.

                


                  Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS, European Society for Immunodeficiencies., Clinical Immunology Society., African Society for Immunodeficiencies., Latin American Society for Immunodeficiencies., Asia Pacific Society for Immunodeficiencies.. The International Alliance of Primary Immune Deficiency Societies. J Clin Immunol. 2018 Jun 5;  

                


                  Sacco KA, Abraham RS. Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution. Immunotherapy. 2018 Jun; 10: 713-728.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38: 540-541.

                


                  Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies. J Clin Immunol. 2018 Apr; 38: 307-319.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 Apr; 38: 320-329.

                


                  Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018 Feb 22; 18: 19.

                


                  Dorn JM, Abraham RS, Rodriguez V, Khan SP, Stefanski H, Joshi A. Optimal approach to assessing T-cell function in haematopoietic cell transplant recipients. BMJ Case Rep. 2018 Jan 23; 2018:

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Education

Date of Appointment at Nationwide Children’s Hospital: 09/04/2018

Fellowship

Mayo Clinic

Date Completed: 12/31/2002

Graduate School

National Institute of Immunology

Date Completed: 12/31/1996

Professional Experience

2019 - Present Jeffrey Modell Foundation for Primary Immunodeficiencies Diagnostic and Research Center at Nationwide Children’s Hospital, Director2018 - Present Nationwide Children’s Hospital, Associate Chief, Academic Affairs, Director of Diagnostic Immunology2002 - 2018 Mayo Clinic, Director, Cellular and Molecular Immunology Laboratory, Professor of Medicine, Professor of Laboratory Medicine and Pathology

Contact Information

Clinical Pathology

Call us at: (614) 722-5329

Email Roshini S Abraham

                    700 Children's DriveColumbus, OH 43205 (map)

Connect with Roshini S. Abraham

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Contact Information

Call us at: (614) 722-5329

Email Roshini S. Abraham, PhD

Clinical Pathology700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Roshini S. Abraham

Biography

    “I am most interested in the diagnosis and treatment of complex immune disorders, and transplant immunology, and am committed to providing the most advanced and holistic care to these patients in collaboration with a multidisciplinary team.”

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Academic and Clinical Areas

Laboratory Services

Anatomic and Clinical Pathology Team

Primary Department

Clinical Pathology

Awards, Honors & Organizations

Research

                  Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, CARMIL2 Consortium, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6; 220: 

                


                  Yonkof JR, Basu A, Redmond MT, Dobbs AK, Perelygina L, Notarangelo LD, Abraham RS, Rangarajan HG. Refractory, fatal autoimmune hemolytic anemia due to ineffective thymic-derived T-cell reconstitution following allogeneic hematopoietic cell transplantation for hypomorphic RAG1 deficiency. Pediatr Blood Cancer. 2022 Dec 30;  e30183.

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Blincoe A, Labrosse R, Abraham RS. Acquired B-cell deficiency secondary to B-cell-depleting therapies. J Immunol Methods. 2022 Nov 11; 511: 113385.

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Mar 28;  

                


                  Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Mar 26;  

                


                  Dimitriades VR, Freeman AF, Henrickson SE, Abraham RS. Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation. Front Pediatr. 2022; 10: 864734.

                


                  Chiarella SE, Jenkins SM, Park MA, Abraham RS, Joshi AY. Sex differences in antibody responses to the 23-valent pneumococcal polysaccharide vaccination. Ann Allergy Asthma Immunol. 2021 Oct; 127: 509-510.

                


                  Kraft MT, Pyle R, Dong X, Hagan JB, Varga E, van Hee M, Boyce TG, Pozos TC, Yilmaz-Demirdag Y, Bahna SL, Abraham RS. Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia. Clin Immunol. 2021 Aug; 229: 108788.

                


                  Cotsapas C, Saarela J, Farmer JR, Scaria V, Abraham RS. Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? J Clin Invest. 2021 Jul 15; 131: 

                


                  Kraft MT, Mehyar LS, Prince BT, Reshmi SC, Abraham RS, Abu-Arja R. Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1. J Clin Immunol. 2021 Jul; 41: 1089-1094.

                


                  Kahwash BM, Yonkof JR, Abraham RS, Mustillo PJ, Abu-Arja R, Rangarajan HG, Scherzer R. Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen. Pediatrics. 2021 Jun; 147: 

                


                  Park MA, Jenkins SM, Smith CY, Pyle RC, Sacco KA, Ryu E, Hagan JB, Joshi AY, Snyder MR, Abraham RS. Pneumococcal serotype-specific cut-offs based on antibody responses to pneumococcal polysaccharide vaccination in healthy adults. Vaccine. 2021 May 18; 39: 2850-2856.

                


                  Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. J Clin Immunol. 2021 May; 41: 795-806.

                


                  Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol. 2021 Mar 11;  

                


                  Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID). J Allergy Clin Immunol Pract. 2021 Feb; 9: 723-732.e3.

                


                  Abraham RS, Butte MJ. The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2021 Feb; 9: 613-625.

                


                  Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I. Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. J Infect Dis. 2021 Feb 24; 223: 645-654.

                


                  Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, IUIS Committee of Inborn Errors of Immunity., Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147: 520-531.

                


                  Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12: 796065.

                


                  Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD. POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development. J Clin Immunol. 2021 Jan; 41: 270-273.

                


                  Abraham RS. How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4; 2020: 661-672.

                


                  Abraham RS, Marshall JM, Kuehn HS, Rueda CM, Gibbs A, Guider W, Stewart C, Rosenzweig SD, Wang H, Jean S, Peeples M, King T, Hunt WG, Honegger JR, Ramilo O, Mustillo PJ, Mejias A, Ardura MI, Shimamura M. Severe SARS-CoV-2 Disease In The Context Of A NF?B2 Loss-Of-Function Pathogenic Variant. J Allergy Clin Immunol. 2020 Sep 29;  

                


                  Haddox CL, Carr RM, Abraham RS, Perez Botero J, Rodriguez V, Pardanani A, Patnaik MM. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. Leuk Lymphoma. 2019 Jun 27;  1-5.

                


                  Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 May 31;  

                


                  Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol. 2019 May 1; 78: 460-466.

                


                  Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kusnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Mar 12;  

                


                  Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. J Allergy Clin Immunol. 2019 Feb 6;  

                


                  Parker AR, Park MA, Harding S, Abraham RS. The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies. Vaccine. 2019 Feb 28; 37: 1350-1355.

                


                  Sheen YH, Kizilbash S, Ryoo E, Wi CI, Park M, Abraham RS, Ryu E, Divekar R, Juhn Y. Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination. J Asthma. 2019 Feb 20;  1-10.

                


                  Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019; 10: 777.

                


                  Hartog NL, Williams KW, Abraham RS. "The State of the Union": Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases. Front Immunol. 2019; 10: 1783.

                


                  Sridharan M, Go RS, Abraham RS, Fervenza FC, Sethi S, Bryant SC, Spears GM, Murray DL, Willrich MAV. Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome. Mayo Clin Proc. 2018 Oct; 93: 1351-1362.

                


                  Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M. Short telomere syndromes cause a primary T cell immunodeficiency. J Clin Invest. 2018 Oct 22;  

                


                  Borzutzky A, Rauter I, Fried A, Rachid R, McDonald DR, Hammarstrom L, Grimbacher B, Abraham RS, Geha RS. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018 Aug 23; 197: 40-44.

                


                  Meesing A, Abraham RS, Razonable RR. Clinical Correlation of Cytomegalovirus Infection with CMV-Specific CD8+ T Cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients. Transplantation. 2018 Aug 6;  

                


                  Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Blood Adv. 2018 Aug 14; 2: 1828-1832.

                


                  Rastogi N, Abraham RS, Chadha R, Thakkar D, Kohli S, Nivargi S, Prakash Yadav S. Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. J Pediatr Hematol Oncol. 2018 Aug; 40: e383-e388.

                


                  Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93: 834-839.

                


                  Perez Botero J, Ho TP, Hogan WJ, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, Chen D, Viswanatha D, Rodriguez V, Khan SP, Patnaik MM. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol. 2018 Jul; 182: 141-145.

                


                  Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS, European Society for Immunodeficiencies., Clinical Immunology Society., African Society for Immunodeficiencies., Latin American Society for Immunodeficiencies., Asia Pacific Society for Immunodeficiencies.. The International Alliance of Primary Immune Deficiency Societies. J Clin Immunol. 2018 Jun 5;  

                


                  Sacco KA, Abraham RS. Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution. Immunotherapy. 2018 Jun; 10: 713-728.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38: 540-541.

                


                  Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies. J Clin Immunol. 2018 Apr; 38: 307-319.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 Apr; 38: 320-329.

                


                  Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018 Feb 22; 18: 19.

                


                  Dorn JM, Abraham RS, Rodriguez V, Khan SP, Stefanski H, Joshi A. Optimal approach to assessing T-cell function in haematopoietic cell transplant recipients. BMJ Case Rep. 2018 Jan 23; 2018:

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Education

Date of Appointment at Nationwide Children’s Hospital: 09/04/2018

Fellowship

Mayo Clinic

Date Completed: 12/31/2002

Graduate School

National Institute of Immunology

Date Completed: 12/31/1996

Professional Experience

Contact Information

Clinical Pathology

Call us at: (614) 722-5329

Email Roshini S Abraham

                    700 Children's DriveColumbus, OH 43205 (map)

Connect with Roshini S. Abraham

Connect on Twitter

Contact Information

Call us at: (614) 722-5329

Email Roshini S. Abraham, PhD

Clinical Pathology700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Roshini S. Abraham

Contact Information

Call us at:
(614) 722-5329
Email Roshini S. Abraham, PhD
Clinical Pathology700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Roshini S. Abraham

Biography

    “I am most interested in the diagnosis and treatment of complex immune disorders, and transplant immunology, and am committed to providing the most advanced and holistic care to these patients in collaboration with a multidisciplinary team.”

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Locations

Main Campus of Nationwide Children’s Hospital

Locations

Main Campus of Nationwide Children’s Hospital

Locations

Main Campus of Nationwide Children’s Hospital

Main Campus of Nationwide Children’s Hospital

Academic and Clinical Areas

Laboratory Services

Anatomic and Clinical Pathology Team

Primary Department

Clinical Pathology

Academic and Clinical Areas

Laboratory Services

Anatomic and Clinical Pathology Team

Primary Department

Clinical Pathology

Academic and Clinical Areas

Laboratory Services

Anatomic and Clinical Pathology Team

Primary Department

Clinical Pathology

Laboratory Services

Anatomic and Clinical Pathology Team

Primary Department

Clinical Pathology

Laboratory Services
Anatomic and Clinical Pathology Team
Primary Department
Clinical Pathology

Awards, Honors & Organizations

Fellow, Clinical Immunology Society (FCIS), 2021
Distinguished Service Award, Clinical Immunology Society, 2021
First Annual ClinGen Excellence Awards for ClinGen Significant Contributors, ClinGen, 2021
Carl R. Joliff Award for Lifetime Achievement in Clinical and Diagnostic Immunology, American Association of Clinical Chemistry (AACC), 2019
Fellow, American Academy of Allergy, Asthma and Immunology (FAAAAI), 2010
Award for Outstanding Scientific Achievements by a Young Investigator, American Association for Clinical Chemistry (AACC), 2006
Doctorate Award, Association of Medical Laboratory Immunologists (AMLI), 2006
George Grannis Award for Excellence in Research and Scientific Publication, National Academy of Clinical Biochemistry (NACB), 2003
Co-Chair, ClinGen, Antibody Deficiencies Gene Curation Expert Panel, 2020 - Present
Document Development Committee - On Newborn Screening for Severe Combined Immunodeficiencies Chair, Clinical Laboratory Standards Institute (CLSI), 2019 - Present
Immunology Clinical Domain Working Group (CDWG) Co-chair, Clinical Genome Resource (ClinGen), 2019 - Present
Past President, Clinical Immunology Society (CIS), 2019 - 2021
Program Co-Chair, CIS Annual Diagnostic Primary Immunodeficiency, 2018 - Present
Member, NIH Clinical Center Board of Scientific Counselors, 2018 - Present
Member, College of American Pathology, Diagnostic Immunology Resource Committee (CAP-DIFCC), 2018 - Present
Curriculum, Educational Resource Scientific Committee (CER-SAC), Chair, Immunology Specialist Group, American Society of Clinical Pathology (ASCP), 2018 - Present
Program Co-Chair, CIS-AAAAAI Diagnostic Primary Immunodeficiency School, 2018 - 2018
President, Clinical Immunology Society (CIS), 2017 - 2019
President-Elect, Clinical Immunology Society (CIS), 2016 - 2017
Program Chair, Clinical Immunology Society (CIS) School on Diagnostic Assessment of Immune phenotype and function in Primary Immunodeficiencies, 2014 - 2018
Member, Research Faculty, 2013 - Present
Elected Councilor, Clinical Immunology Society (CIS), 2013 - 2016
Chairman, Credentials Committee Chairman, 2012 - 2017
Vice Chair, Clinical Laboratory Standards Institute (CLSI) Document Development Committee - On severe combined Immunodeficiencies, 2011 - 2013
Member, American Board of Medical Laboratory Immunologists (ABMLI), 2011 - 2017
Member, American Society of Transplantation (AST), 2010 - Present
Member, International Clinical Cytometry Society (ICCS), 2010 - Present
Member, International Society for Advancement of Cytometry (ISAC), 2010 - Present
Member, Primary Immunodeficiency Subcommittee Working Group on Newborn Screening for Severe Combined Immunodeficiency (SCID), 2010 - 2012
Member, Exam Development Committee, 2010 - 2013
Co-Coordinator, Newborn Screening Translational Research Network (NBSTRN) and Region 4 Stork International Database for Severe Combined Immunodeficiency, 2010 - 2015
Director, Jeffrey Modell Foundation for Primary Immunodeficiencies, 2009 - Present
Member, Credentials Committee, 2009 - 2012
Member, European Society for Immunodeficiencies (ESID), 2008 - Present
Member, Young Diplomates Committee, 2008 - 2010
Member, American Academy of Allergy, Asthma and Immunology (AAAAI) Basic & Clinical Immunology (BCI) Section/Primary Immunodeficiency Diseases Committee, 2008 - 2011
Councilor, Association of Medical Laboratory Immunologists (AMLI), 2008 - 2011
Scientific Program Organizer, Association of Medical Laboratory Immunologists (AMLI), 2008 - 2019
Member, Examination Validation Committee, 2007 - 2010
Member, Sigma Xi, The Scientific Research Society Mayo Foundation Chapter Executive Committee, 2006 - 2008
Member, Association of Medical Laboratory Immunologists (AMLI), 2005 - Present
Member, American Society of Hematology (ASH), 2005 - Present
Member, Clinical Immunology Society (CIS), 2005 - Present
Postdoctoral Fellowship, Juvenile Diabetes Foundation Research International, 1998 - 2000
Member, Sigma Xi, The Scientific Research Society Mayo Foundation Chapter, 1997 - 2013
Member, American Association of Immunologists (AAI), 1996 - Present
Senior Research Fellowship, Government of India, Department of Biotechnology, 1993 - 1996
Junior Research Fellowship, Government of India - Department of Biotechnology, 1991 - 1993
Fellow, American Academy of Allergy, Asthma and Immunology (AAAAI)
Member, Board of Scientific Counselors of the National Institutes of Health Clinical Center
Associate Editor, Journal of Clinical Immunology (JOCI)
Diplomate, American Board of Medical Laboratory Immunology (ABMLI)

Research

                  Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, CARMIL2 Consortium, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6; 220: 

                


                  Yonkof JR, Basu A, Redmond MT, Dobbs AK, Perelygina L, Notarangelo LD, Abraham RS, Rangarajan HG. Refractory, fatal autoimmune hemolytic anemia due to ineffective thymic-derived T-cell reconstitution following allogeneic hematopoietic cell transplantation for hypomorphic RAG1 deficiency. Pediatr Blood Cancer. 2022 Dec 30;  e30183.

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Blincoe A, Labrosse R, Abraham RS. Acquired B-cell deficiency secondary to B-cell-depleting therapies. J Immunol Methods. 2022 Nov 11; 511: 113385.

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Mar 28;  

                


                  Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Mar 26;  

                


                  Dimitriades VR, Freeman AF, Henrickson SE, Abraham RS. Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation. Front Pediatr. 2022; 10: 864734.

                


                  Chiarella SE, Jenkins SM, Park MA, Abraham RS, Joshi AY. Sex differences in antibody responses to the 23-valent pneumococcal polysaccharide vaccination. Ann Allergy Asthma Immunol. 2021 Oct; 127: 509-510.

                


                  Kraft MT, Pyle R, Dong X, Hagan JB, Varga E, van Hee M, Boyce TG, Pozos TC, Yilmaz-Demirdag Y, Bahna SL, Abraham RS. Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia. Clin Immunol. 2021 Aug; 229: 108788.

                


                  Cotsapas C, Saarela J, Farmer JR, Scaria V, Abraham RS. Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? J Clin Invest. 2021 Jul 15; 131: 

                


                  Kraft MT, Mehyar LS, Prince BT, Reshmi SC, Abraham RS, Abu-Arja R. Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1. J Clin Immunol. 2021 Jul; 41: 1089-1094.

                


                  Kahwash BM, Yonkof JR, Abraham RS, Mustillo PJ, Abu-Arja R, Rangarajan HG, Scherzer R. Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen. Pediatrics. 2021 Jun; 147: 

                


                  Park MA, Jenkins SM, Smith CY, Pyle RC, Sacco KA, Ryu E, Hagan JB, Joshi AY, Snyder MR, Abraham RS. Pneumococcal serotype-specific cut-offs based on antibody responses to pneumococcal polysaccharide vaccination in healthy adults. Vaccine. 2021 May 18; 39: 2850-2856.

                


                  Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. J Clin Immunol. 2021 May; 41: 795-806.

                


                  Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol. 2021 Mar 11;  

                


                  Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID). J Allergy Clin Immunol Pract. 2021 Feb; 9: 723-732.e3.

                


                  Abraham RS, Butte MJ. The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2021 Feb; 9: 613-625.

                


                  Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I. Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. J Infect Dis. 2021 Feb 24; 223: 645-654.

                


                  Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, IUIS Committee of Inborn Errors of Immunity., Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147: 520-531.

                


                  Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12: 796065.

                


                  Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD. POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development. J Clin Immunol. 2021 Jan; 41: 270-273.

                


                  Abraham RS. How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4; 2020: 661-672.

                


                  Abraham RS, Marshall JM, Kuehn HS, Rueda CM, Gibbs A, Guider W, Stewart C, Rosenzweig SD, Wang H, Jean S, Peeples M, King T, Hunt WG, Honegger JR, Ramilo O, Mustillo PJ, Mejias A, Ardura MI, Shimamura M. Severe SARS-CoV-2 Disease In The Context Of A NF?B2 Loss-Of-Function Pathogenic Variant. J Allergy Clin Immunol. 2020 Sep 29;  

                


                  Haddox CL, Carr RM, Abraham RS, Perez Botero J, Rodriguez V, Pardanani A, Patnaik MM. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. Leuk Lymphoma. 2019 Jun 27;  1-5.

                


                  Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 May 31;  

                


                  Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol. 2019 May 1; 78: 460-466.

                


                  Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kusnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Mar 12;  

                


                  Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. J Allergy Clin Immunol. 2019 Feb 6;  

                


                  Parker AR, Park MA, Harding S, Abraham RS. The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies. Vaccine. 2019 Feb 28; 37: 1350-1355.

                


                  Sheen YH, Kizilbash S, Ryoo E, Wi CI, Park M, Abraham RS, Ryu E, Divekar R, Juhn Y. Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination. J Asthma. 2019 Feb 20;  1-10.

                


                  Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019; 10: 777.

                


                  Hartog NL, Williams KW, Abraham RS. "The State of the Union": Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases. Front Immunol. 2019; 10: 1783.

                


                  Sridharan M, Go RS, Abraham RS, Fervenza FC, Sethi S, Bryant SC, Spears GM, Murray DL, Willrich MAV. Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome. Mayo Clin Proc. 2018 Oct; 93: 1351-1362.

                


                  Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M. Short telomere syndromes cause a primary T cell immunodeficiency. J Clin Invest. 2018 Oct 22;  

                


                  Borzutzky A, Rauter I, Fried A, Rachid R, McDonald DR, Hammarstrom L, Grimbacher B, Abraham RS, Geha RS. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018 Aug 23; 197: 40-44.

                


                  Meesing A, Abraham RS, Razonable RR. Clinical Correlation of Cytomegalovirus Infection with CMV-Specific CD8+ T Cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients. Transplantation. 2018 Aug 6;  

                


                  Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Blood Adv. 2018 Aug 14; 2: 1828-1832.

                


                  Rastogi N, Abraham RS, Chadha R, Thakkar D, Kohli S, Nivargi S, Prakash Yadav S. Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. J Pediatr Hematol Oncol. 2018 Aug; 40: e383-e388.

                


                  Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93: 834-839.

                


                  Perez Botero J, Ho TP, Hogan WJ, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, Chen D, Viswanatha D, Rodriguez V, Khan SP, Patnaik MM. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol. 2018 Jul; 182: 141-145.

                


                  Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS, European Society for Immunodeficiencies., Clinical Immunology Society., African Society for Immunodeficiencies., Latin American Society for Immunodeficiencies., Asia Pacific Society for Immunodeficiencies.. The International Alliance of Primary Immune Deficiency Societies. J Clin Immunol. 2018 Jun 5;  

                


                  Sacco KA, Abraham RS. Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution. Immunotherapy. 2018 Jun; 10: 713-728.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38: 540-541.

                


                  Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies. J Clin Immunol. 2018 Apr; 38: 307-319.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 Apr; 38: 320-329.

                


                  Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018 Feb 22; 18: 19.

                


                  Dorn JM, Abraham RS, Rodriguez V, Khan SP, Stefanski H, Joshi A. Optimal approach to assessing T-cell function in haematopoietic cell transplant recipients. BMJ Case Rep. 2018 Jan 23; 2018:

View More Publications

Research

                  Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, CARMIL2 Consortium, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6; 220: 

                


                  Yonkof JR, Basu A, Redmond MT, Dobbs AK, Perelygina L, Notarangelo LD, Abraham RS, Rangarajan HG. Refractory, fatal autoimmune hemolytic anemia due to ineffective thymic-derived T-cell reconstitution following allogeneic hematopoietic cell transplantation for hypomorphic RAG1 deficiency. Pediatr Blood Cancer. 2022 Dec 30;  e30183.

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Blincoe A, Labrosse R, Abraham RS. Acquired B-cell deficiency secondary to B-cell-depleting therapies. J Immunol Methods. 2022 Nov 11; 511: 113385.

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Mar 28;  

                


                  Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Mar 26;  

                


                  Dimitriades VR, Freeman AF, Henrickson SE, Abraham RS. Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation. Front Pediatr. 2022; 10: 864734.

                


                  Chiarella SE, Jenkins SM, Park MA, Abraham RS, Joshi AY. Sex differences in antibody responses to the 23-valent pneumococcal polysaccharide vaccination. Ann Allergy Asthma Immunol. 2021 Oct; 127: 509-510.

                


                  Kraft MT, Pyle R, Dong X, Hagan JB, Varga E, van Hee M, Boyce TG, Pozos TC, Yilmaz-Demirdag Y, Bahna SL, Abraham RS. Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia. Clin Immunol. 2021 Aug; 229: 108788.

                


                  Cotsapas C, Saarela J, Farmer JR, Scaria V, Abraham RS. Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? J Clin Invest. 2021 Jul 15; 131: 

                


                  Kraft MT, Mehyar LS, Prince BT, Reshmi SC, Abraham RS, Abu-Arja R. Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1. J Clin Immunol. 2021 Jul; 41: 1089-1094.

                


                  Kahwash BM, Yonkof JR, Abraham RS, Mustillo PJ, Abu-Arja R, Rangarajan HG, Scherzer R. Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen. Pediatrics. 2021 Jun; 147: 

                


                  Park MA, Jenkins SM, Smith CY, Pyle RC, Sacco KA, Ryu E, Hagan JB, Joshi AY, Snyder MR, Abraham RS. Pneumococcal serotype-specific cut-offs based on antibody responses to pneumococcal polysaccharide vaccination in healthy adults. Vaccine. 2021 May 18; 39: 2850-2856.

                


                  Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. J Clin Immunol. 2021 May; 41: 795-806.

                


                  Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol. 2021 Mar 11;  

                


                  Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID). J Allergy Clin Immunol Pract. 2021 Feb; 9: 723-732.e3.

                


                  Abraham RS, Butte MJ. The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2021 Feb; 9: 613-625.

                


                  Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I. Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. J Infect Dis. 2021 Feb 24; 223: 645-654.

                


                  Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, IUIS Committee of Inborn Errors of Immunity., Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147: 520-531.

                


                  Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12: 796065.

                


                  Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD. POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development. J Clin Immunol. 2021 Jan; 41: 270-273.

                


                  Abraham RS. How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4; 2020: 661-672.

                


                  Abraham RS, Marshall JM, Kuehn HS, Rueda CM, Gibbs A, Guider W, Stewart C, Rosenzweig SD, Wang H, Jean S, Peeples M, King T, Hunt WG, Honegger JR, Ramilo O, Mustillo PJ, Mejias A, Ardura MI, Shimamura M. Severe SARS-CoV-2 Disease In The Context Of A NF?B2 Loss-Of-Function Pathogenic Variant. J Allergy Clin Immunol. 2020 Sep 29;  

                


                  Haddox CL, Carr RM, Abraham RS, Perez Botero J, Rodriguez V, Pardanani A, Patnaik MM. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. Leuk Lymphoma. 2019 Jun 27;  1-5.

                


                  Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 May 31;  

                


                  Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol. 2019 May 1; 78: 460-466.

                


                  Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kusnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Mar 12;  

                


                  Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. J Allergy Clin Immunol. 2019 Feb 6;  

                


                  Parker AR, Park MA, Harding S, Abraham RS. The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies. Vaccine. 2019 Feb 28; 37: 1350-1355.

                


                  Sheen YH, Kizilbash S, Ryoo E, Wi CI, Park M, Abraham RS, Ryu E, Divekar R, Juhn Y. Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination. J Asthma. 2019 Feb 20;  1-10.

                


                  Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019; 10: 777.

                


                  Hartog NL, Williams KW, Abraham RS. "The State of the Union": Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases. Front Immunol. 2019; 10: 1783.

                


                  Sridharan M, Go RS, Abraham RS, Fervenza FC, Sethi S, Bryant SC, Spears GM, Murray DL, Willrich MAV. Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome. Mayo Clin Proc. 2018 Oct; 93: 1351-1362.

                


                  Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M. Short telomere syndromes cause a primary T cell immunodeficiency. J Clin Invest. 2018 Oct 22;  

                


                  Borzutzky A, Rauter I, Fried A, Rachid R, McDonald DR, Hammarstrom L, Grimbacher B, Abraham RS, Geha RS. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018 Aug 23; 197: 40-44.

                


                  Meesing A, Abraham RS, Razonable RR. Clinical Correlation of Cytomegalovirus Infection with CMV-Specific CD8+ T Cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients. Transplantation. 2018 Aug 6;  

                


                  Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Blood Adv. 2018 Aug 14; 2: 1828-1832.

                


                  Rastogi N, Abraham RS, Chadha R, Thakkar D, Kohli S, Nivargi S, Prakash Yadav S. Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. J Pediatr Hematol Oncol. 2018 Aug; 40: e383-e388.

                


                  Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93: 834-839.

                


                  Perez Botero J, Ho TP, Hogan WJ, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, Chen D, Viswanatha D, Rodriguez V, Khan SP, Patnaik MM. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol. 2018 Jul; 182: 141-145.

                


                  Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS, European Society for Immunodeficiencies., Clinical Immunology Society., African Society for Immunodeficiencies., Latin American Society for Immunodeficiencies., Asia Pacific Society for Immunodeficiencies.. The International Alliance of Primary Immune Deficiency Societies. J Clin Immunol. 2018 Jun 5;  

                


                  Sacco KA, Abraham RS. Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution. Immunotherapy. 2018 Jun; 10: 713-728.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38: 540-541.

                


                  Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies. J Clin Immunol. 2018 Apr; 38: 307-319.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 Apr; 38: 320-329.

                


                  Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018 Feb 22; 18: 19.

                


                  Dorn JM, Abraham RS, Rodriguez V, Khan SP, Stefanski H, Joshi A. Optimal approach to assessing T-cell function in haematopoietic cell transplant recipients. BMJ Case Rep. 2018 Jan 23; 2018:

View More Publications

Research

                  Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, CARMIL2 Consortium, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6; 220: 

                


                  Yonkof JR, Basu A, Redmond MT, Dobbs AK, Perelygina L, Notarangelo LD, Abraham RS, Rangarajan HG. Refractory, fatal autoimmune hemolytic anemia due to ineffective thymic-derived T-cell reconstitution following allogeneic hematopoietic cell transplantation for hypomorphic RAG1 deficiency. Pediatr Blood Cancer. 2022 Dec 30;  e30183.

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Blincoe A, Labrosse R, Abraham RS. Acquired B-cell deficiency secondary to B-cell-depleting therapies. J Immunol Methods. 2022 Nov 11; 511: 113385.

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Mar 28;  

                


                  Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Mar 26;  

                


                  Dimitriades VR, Freeman AF, Henrickson SE, Abraham RS. Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation. Front Pediatr. 2022; 10: 864734.

                


                  Chiarella SE, Jenkins SM, Park MA, Abraham RS, Joshi AY. Sex differences in antibody responses to the 23-valent pneumococcal polysaccharide vaccination. Ann Allergy Asthma Immunol. 2021 Oct; 127: 509-510.

                


                  Kraft MT, Pyle R, Dong X, Hagan JB, Varga E, van Hee M, Boyce TG, Pozos TC, Yilmaz-Demirdag Y, Bahna SL, Abraham RS. Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia. Clin Immunol. 2021 Aug; 229: 108788.

                


                  Cotsapas C, Saarela J, Farmer JR, Scaria V, Abraham RS. Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? J Clin Invest. 2021 Jul 15; 131: 

                


                  Kraft MT, Mehyar LS, Prince BT, Reshmi SC, Abraham RS, Abu-Arja R. Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1. J Clin Immunol. 2021 Jul; 41: 1089-1094.

                


                  Kahwash BM, Yonkof JR, Abraham RS, Mustillo PJ, Abu-Arja R, Rangarajan HG, Scherzer R. Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen. Pediatrics. 2021 Jun; 147: 

                


                  Park MA, Jenkins SM, Smith CY, Pyle RC, Sacco KA, Ryu E, Hagan JB, Joshi AY, Snyder MR, Abraham RS. Pneumococcal serotype-specific cut-offs based on antibody responses to pneumococcal polysaccharide vaccination in healthy adults. Vaccine. 2021 May 18; 39: 2850-2856.

                


                  Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. J Clin Immunol. 2021 May; 41: 795-806.

                


                  Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol. 2021 Mar 11;  

                


                  Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID). J Allergy Clin Immunol Pract. 2021 Feb; 9: 723-732.e3.

                


                  Abraham RS, Butte MJ. The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2021 Feb; 9: 613-625.

                


                  Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I. Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. J Infect Dis. 2021 Feb 24; 223: 645-654.

                


                  Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, IUIS Committee of Inborn Errors of Immunity., Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147: 520-531.

                


                  Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12: 796065.

                


                  Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD. POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development. J Clin Immunol. 2021 Jan; 41: 270-273.

                


                  Abraham RS. How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4; 2020: 661-672.

                


                  Abraham RS, Marshall JM, Kuehn HS, Rueda CM, Gibbs A, Guider W, Stewart C, Rosenzweig SD, Wang H, Jean S, Peeples M, King T, Hunt WG, Honegger JR, Ramilo O, Mustillo PJ, Mejias A, Ardura MI, Shimamura M. Severe SARS-CoV-2 Disease In The Context Of A NF?B2 Loss-Of-Function Pathogenic Variant. J Allergy Clin Immunol. 2020 Sep 29;  

                


                  Haddox CL, Carr RM, Abraham RS, Perez Botero J, Rodriguez V, Pardanani A, Patnaik MM. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. Leuk Lymphoma. 2019 Jun 27;  1-5.

                


                  Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 May 31;  

                


                  Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol. 2019 May 1; 78: 460-466.

                


                  Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kusnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Mar 12;  

                


                  Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. J Allergy Clin Immunol. 2019 Feb 6;  

                


                  Parker AR, Park MA, Harding S, Abraham RS. The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies. Vaccine. 2019 Feb 28; 37: 1350-1355.

                


                  Sheen YH, Kizilbash S, Ryoo E, Wi CI, Park M, Abraham RS, Ryu E, Divekar R, Juhn Y. Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination. J Asthma. 2019 Feb 20;  1-10.

                


                  Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019; 10: 777.

                


                  Hartog NL, Williams KW, Abraham RS. "The State of the Union": Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases. Front Immunol. 2019; 10: 1783.

                


                  Sridharan M, Go RS, Abraham RS, Fervenza FC, Sethi S, Bryant SC, Spears GM, Murray DL, Willrich MAV. Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome. Mayo Clin Proc. 2018 Oct; 93: 1351-1362.

                


                  Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M. Short telomere syndromes cause a primary T cell immunodeficiency. J Clin Invest. 2018 Oct 22;  

                


                  Borzutzky A, Rauter I, Fried A, Rachid R, McDonald DR, Hammarstrom L, Grimbacher B, Abraham RS, Geha RS. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018 Aug 23; 197: 40-44.

                


                  Meesing A, Abraham RS, Razonable RR. Clinical Correlation of Cytomegalovirus Infection with CMV-Specific CD8+ T Cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients. Transplantation. 2018 Aug 6;  

                


                  Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Blood Adv. 2018 Aug 14; 2: 1828-1832.

                


                  Rastogi N, Abraham RS, Chadha R, Thakkar D, Kohli S, Nivargi S, Prakash Yadav S. Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. J Pediatr Hematol Oncol. 2018 Aug; 40: e383-e388.

                


                  Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93: 834-839.

                


                  Perez Botero J, Ho TP, Hogan WJ, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, Chen D, Viswanatha D, Rodriguez V, Khan SP, Patnaik MM. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol. 2018 Jul; 182: 141-145.

                


                  Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS, European Society for Immunodeficiencies., Clinical Immunology Society., African Society for Immunodeficiencies., Latin American Society for Immunodeficiencies., Asia Pacific Society for Immunodeficiencies.. The International Alliance of Primary Immune Deficiency Societies. J Clin Immunol. 2018 Jun 5;  

                


                  Sacco KA, Abraham RS. Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution. Immunotherapy. 2018 Jun; 10: 713-728.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38: 540-541.

                


                  Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies. J Clin Immunol. 2018 Apr; 38: 307-319.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 Apr; 38: 320-329.

                


                  Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018 Feb 22; 18: 19.

                


                  Dorn JM, Abraham RS, Rodriguez V, Khan SP, Stefanski H, Joshi A. Optimal approach to assessing T-cell function in haematopoietic cell transplant recipients. BMJ Case Rep. 2018 Jan 23; 2018:

View More Publications

                  Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, CARMIL2 Consortium, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6; 220: 

                


                  Yonkof JR, Basu A, Redmond MT, Dobbs AK, Perelygina L, Notarangelo LD, Abraham RS, Rangarajan HG. Refractory, fatal autoimmune hemolytic anemia due to ineffective thymic-derived T-cell reconstitution following allogeneic hematopoietic cell transplantation for hypomorphic RAG1 deficiency. Pediatr Blood Cancer. 2022 Dec 30;  e30183.

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Blincoe A, Labrosse R, Abraham RS. Acquired B-cell deficiency secondary to B-cell-depleting therapies. J Immunol Methods. 2022 Nov 11; 511: 113385.

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Mar 28;  

                


                  Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Mar 26;  

                


                  Dimitriades VR, Freeman AF, Henrickson SE, Abraham RS. Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation. Front Pediatr. 2022; 10: 864734.

                


                  Chiarella SE, Jenkins SM, Park MA, Abraham RS, Joshi AY. Sex differences in antibody responses to the 23-valent pneumococcal polysaccharide vaccination. Ann Allergy Asthma Immunol. 2021 Oct; 127: 509-510.

                


                  Kraft MT, Pyle R, Dong X, Hagan JB, Varga E, van Hee M, Boyce TG, Pozos TC, Yilmaz-Demirdag Y, Bahna SL, Abraham RS. Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia. Clin Immunol. 2021 Aug; 229: 108788.

                


                  Cotsapas C, Saarela J, Farmer JR, Scaria V, Abraham RS. Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? J Clin Invest. 2021 Jul 15; 131: 

                


                  Kraft MT, Mehyar LS, Prince BT, Reshmi SC, Abraham RS, Abu-Arja R. Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1. J Clin Immunol. 2021 Jul; 41: 1089-1094.

                


                  Kahwash BM, Yonkof JR, Abraham RS, Mustillo PJ, Abu-Arja R, Rangarajan HG, Scherzer R. Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen. Pediatrics. 2021 Jun; 147: 

                


                  Park MA, Jenkins SM, Smith CY, Pyle RC, Sacco KA, Ryu E, Hagan JB, Joshi AY, Snyder MR, Abraham RS. Pneumococcal serotype-specific cut-offs based on antibody responses to pneumococcal polysaccharide vaccination in healthy adults. Vaccine. 2021 May 18; 39: 2850-2856.

                


                  Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. J Clin Immunol. 2021 May; 41: 795-806.

                


                  Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol. 2021 Mar 11;  

                


                  Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID). J Allergy Clin Immunol Pract. 2021 Feb; 9: 723-732.e3.

                


                  Abraham RS, Butte MJ. The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2021 Feb; 9: 613-625.

                


                  Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I. Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. J Infect Dis. 2021 Feb 24; 223: 645-654.

                


                  Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, IUIS Committee of Inborn Errors of Immunity., Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147: 520-531.

                


                  Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12: 796065.

                


                  Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD. POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development. J Clin Immunol. 2021 Jan; 41: 270-273.

                


                  Abraham RS. How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4; 2020: 661-672.

                


                  Abraham RS, Marshall JM, Kuehn HS, Rueda CM, Gibbs A, Guider W, Stewart C, Rosenzweig SD, Wang H, Jean S, Peeples M, King T, Hunt WG, Honegger JR, Ramilo O, Mustillo PJ, Mejias A, Ardura MI, Shimamura M. Severe SARS-CoV-2 Disease In The Context Of A NF?B2 Loss-Of-Function Pathogenic Variant. J Allergy Clin Immunol. 2020 Sep 29;  

                


                  Haddox CL, Carr RM, Abraham RS, Perez Botero J, Rodriguez V, Pardanani A, Patnaik MM. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. Leuk Lymphoma. 2019 Jun 27;  1-5.

                


                  Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 May 31;  

                


                  Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol. 2019 May 1; 78: 460-466.

                


                  Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kusnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Mar 12;  

                


                  Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. J Allergy Clin Immunol. 2019 Feb 6;  

                


                  Parker AR, Park MA, Harding S, Abraham RS. The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies. Vaccine. 2019 Feb 28; 37: 1350-1355.

                


                  Sheen YH, Kizilbash S, Ryoo E, Wi CI, Park M, Abraham RS, Ryu E, Divekar R, Juhn Y. Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination. J Asthma. 2019 Feb 20;  1-10.

                


                  Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019; 10: 777.

                


                  Hartog NL, Williams KW, Abraham RS. "The State of the Union": Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases. Front Immunol. 2019; 10: 1783.

                


                  Sridharan M, Go RS, Abraham RS, Fervenza FC, Sethi S, Bryant SC, Spears GM, Murray DL, Willrich MAV. Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome. Mayo Clin Proc. 2018 Oct; 93: 1351-1362.

                


                  Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M. Short telomere syndromes cause a primary T cell immunodeficiency. J Clin Invest. 2018 Oct 22;  

                


                  Borzutzky A, Rauter I, Fried A, Rachid R, McDonald DR, Hammarstrom L, Grimbacher B, Abraham RS, Geha RS. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018 Aug 23; 197: 40-44.

                


                  Meesing A, Abraham RS, Razonable RR. Clinical Correlation of Cytomegalovirus Infection with CMV-Specific CD8+ T Cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients. Transplantation. 2018 Aug 6;  

                


                  Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Blood Adv. 2018 Aug 14; 2: 1828-1832.

                


                  Rastogi N, Abraham RS, Chadha R, Thakkar D, Kohli S, Nivargi S, Prakash Yadav S. Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. J Pediatr Hematol Oncol. 2018 Aug; 40: e383-e388.

                


                  Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93: 834-839.

                


                  Perez Botero J, Ho TP, Hogan WJ, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, Chen D, Viswanatha D, Rodriguez V, Khan SP, Patnaik MM. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol. 2018 Jul; 182: 141-145.

                


                  Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS, European Society for Immunodeficiencies., Clinical Immunology Society., African Society for Immunodeficiencies., Latin American Society for Immunodeficiencies., Asia Pacific Society for Immunodeficiencies.. The International Alliance of Primary Immune Deficiency Societies. J Clin Immunol. 2018 Jun 5;  

                


                  Sacco KA, Abraham RS. Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution. Immunotherapy. 2018 Jun; 10: 713-728.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38: 540-541.

                


                  Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies. J Clin Immunol. 2018 Apr; 38: 307-319.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 Apr; 38: 320-329.

                


                  Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018 Feb 22; 18: 19.

                


                  Dorn JM, Abraham RS, Rodriguez V, Khan SP, Stefanski H, Joshi A. Optimal approach to assessing T-cell function in haematopoietic cell transplant recipients. BMJ Case Rep. 2018 Jan 23; 2018:

View More Publications

                  Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, CARMIL2 Consortium, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6; 220: 

                


                  Yonkof JR, Basu A, Redmond MT, Dobbs AK, Perelygina L, Notarangelo LD, Abraham RS, Rangarajan HG. Refractory, fatal autoimmune hemolytic anemia due to ineffective thymic-derived T-cell reconstitution following allogeneic hematopoietic cell transplantation for hypomorphic RAG1 deficiency. Pediatr Blood Cancer. 2022 Dec 30;  e30183.

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;  

                


                  Blincoe A, Labrosse R, Abraham RS. Acquired B-cell deficiency secondary to B-cell-depleting therapies. J Immunol Methods. 2022 Nov 11; 511: 113385.

                


                  Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;  

                


                  Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Mar 28;  

                


                  Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Mar 26;  

                


                  Dimitriades VR, Freeman AF, Henrickson SE, Abraham RS. Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation. Front Pediatr. 2022; 10: 864734.

                


                  Chiarella SE, Jenkins SM, Park MA, Abraham RS, Joshi AY. Sex differences in antibody responses to the 23-valent pneumococcal polysaccharide vaccination. Ann Allergy Asthma Immunol. 2021 Oct; 127: 509-510.

                


                  Kraft MT, Pyle R, Dong X, Hagan JB, Varga E, van Hee M, Boyce TG, Pozos TC, Yilmaz-Demirdag Y, Bahna SL, Abraham RS. Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia. Clin Immunol. 2021 Aug; 229: 108788.

                


                  Cotsapas C, Saarela J, Farmer JR, Scaria V, Abraham RS. Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? J Clin Invest. 2021 Jul 15; 131: 

                


                  Kraft MT, Mehyar LS, Prince BT, Reshmi SC, Abraham RS, Abu-Arja R. Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1. J Clin Immunol. 2021 Jul; 41: 1089-1094.

                


                  Kahwash BM, Yonkof JR, Abraham RS, Mustillo PJ, Abu-Arja R, Rangarajan HG, Scherzer R. Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen. Pediatrics. 2021 Jun; 147: 

                


                  Park MA, Jenkins SM, Smith CY, Pyle RC, Sacco KA, Ryu E, Hagan JB, Joshi AY, Snyder MR, Abraham RS. Pneumococcal serotype-specific cut-offs based on antibody responses to pneumococcal polysaccharide vaccination in healthy adults. Vaccine. 2021 May 18; 39: 2850-2856.

                


                  Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. J Clin Immunol. 2021 May; 41: 795-806.

                


                  Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol. 2021 Mar 11;  

                


                  Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID). J Allergy Clin Immunol Pract. 2021 Feb; 9: 723-732.e3.

                


                  Abraham RS, Butte MJ. The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2021 Feb; 9: 613-625.

                


                  Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I. Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. J Infect Dis. 2021 Feb 24; 223: 645-654.

                


                  Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, IUIS Committee of Inborn Errors of Immunity., Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147: 520-531.

                


                  Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12: 796065.

                


                  Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD. POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development. J Clin Immunol. 2021 Jan; 41: 270-273.

                


                  Abraham RS. How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4; 2020: 661-672.

                


                  Abraham RS, Marshall JM, Kuehn HS, Rueda CM, Gibbs A, Guider W, Stewart C, Rosenzweig SD, Wang H, Jean S, Peeples M, King T, Hunt WG, Honegger JR, Ramilo O, Mustillo PJ, Mejias A, Ardura MI, Shimamura M. Severe SARS-CoV-2 Disease In The Context Of A NF?B2 Loss-Of-Function Pathogenic Variant. J Allergy Clin Immunol. 2020 Sep 29;  

                


                  Haddox CL, Carr RM, Abraham RS, Perez Botero J, Rodriguez V, Pardanani A, Patnaik MM. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. Leuk Lymphoma. 2019 Jun 27;  1-5.

                


                  Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 May 31;  

                


                  Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol. 2019 May 1; 78: 460-466.

                


                  Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kusnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Mar 12;  

                


                  Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. J Allergy Clin Immunol. 2019 Feb 6;  

                


                  Parker AR, Park MA, Harding S, Abraham RS. The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies. Vaccine. 2019 Feb 28; 37: 1350-1355.

                


                  Sheen YH, Kizilbash S, Ryoo E, Wi CI, Park M, Abraham RS, Ryu E, Divekar R, Juhn Y. Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination. J Asthma. 2019 Feb 20;  1-10.

                


                  Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019; 10: 777.

                


                  Hartog NL, Williams KW, Abraham RS. "The State of the Union": Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases. Front Immunol. 2019; 10: 1783.

                


                  Sridharan M, Go RS, Abraham RS, Fervenza FC, Sethi S, Bryant SC, Spears GM, Murray DL, Willrich MAV. Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome. Mayo Clin Proc. 2018 Oct; 93: 1351-1362.

                


                  Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M. Short telomere syndromes cause a primary T cell immunodeficiency. J Clin Invest. 2018 Oct 22;  

                


                  Borzutzky A, Rauter I, Fried A, Rachid R, McDonald DR, Hammarstrom L, Grimbacher B, Abraham RS, Geha RS. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018 Aug 23; 197: 40-44.

                


                  Meesing A, Abraham RS, Razonable RR. Clinical Correlation of Cytomegalovirus Infection with CMV-Specific CD8+ T Cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients. Transplantation. 2018 Aug 6;  

                


                  Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Blood Adv. 2018 Aug 14; 2: 1828-1832.

                


                  Rastogi N, Abraham RS, Chadha R, Thakkar D, Kohli S, Nivargi S, Prakash Yadav S. Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. J Pediatr Hematol Oncol. 2018 Aug; 40: e383-e388.

                


                  Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93: 834-839.

                


                  Perez Botero J, Ho TP, Hogan WJ, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, Chen D, Viswanatha D, Rodriguez V, Khan SP, Patnaik MM. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol. 2018 Jul; 182: 141-145.

                


                  Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS, European Society for Immunodeficiencies., Clinical Immunology Society., African Society for Immunodeficiencies., Latin American Society for Immunodeficiencies., Asia Pacific Society for Immunodeficiencies.. The International Alliance of Primary Immune Deficiency Societies. J Clin Immunol. 2018 Jun 5;  

                


                  Sacco KA, Abraham RS. Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution. Immunotherapy. 2018 Jun; 10: 713-728.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38: 540-541.

                


                  Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies. J Clin Immunol. 2018 Apr; 38: 307-319.

                


                  Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 Apr; 38: 320-329.

                


                  Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018 Feb 22; 18: 19.

                


                  Dorn JM, Abraham RS, Rodriguez V, Khan SP, Stefanski H, Joshi A. Optimal approach to assessing T-cell function in haematopoietic cell transplant recipients. BMJ Case Rep. 2018 Jan 23; 2018:

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Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, CARMIL2 Consortium, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6; 220:
Yonkof JR, Basu A, Redmond MT, Dobbs AK, Perelygina L, Notarangelo LD, Abraham RS, Rangarajan HG. Refractory, fatal autoimmune hemolytic anemia due to ineffective thymic-derived T-cell reconstitution following allogeneic hematopoietic cell transplantation for hypomorphic RAG1 deficiency. Pediatr Blood Cancer. 2022 Dec 30; e30183.
Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O’Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;
Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O’Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28;
Blincoe A, Labrosse R, Abraham RS. Acquired B-cell deficiency secondary to B-cell-depleting therapies. J Immunol Methods. 2022 Nov 11; 511: 113385.
Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford). 2022 Apr 12;
Donko A, Kuhns DB, Cousin MA, Smith MJ, Sacco KA, Klee EW, Joshi AY, Gavrilova RH, Holland SM, Leto TL, Abraham RS. Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar. J Clin Immunol. 2022 Mar 28;
Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Mar 26;
Dimitriades VR, Freeman AF, Henrickson SE, Abraham RS. Supporting Careers of Women in Clinical Immunology: From Conceptualization to Implementation. Front Pediatr. 2022; 10: 864734.
Chiarella SE, Jenkins SM, Park MA, Abraham RS, Joshi AY. Sex differences in antibody responses to the 23-valent pneumococcal polysaccharide vaccination. Ann Allergy Asthma Immunol. 2021 Oct; 127: 509-510.
Kraft MT, Pyle R, Dong X, Hagan JB, Varga E, van Hee M, Boyce TG, Pozos TC, Yilmaz-Demirdag Y, Bahna SL, Abraham RS. Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia. Clin Immunol. 2021 Aug; 229: 108788.
Cotsapas C, Saarela J, Farmer JR, Scaria V, Abraham RS. Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19? J Clin Invest. 2021 Jul 15; 131:
Kraft MT, Mehyar LS, Prince BT, Reshmi SC, Abraham RS, Abu-Arja R. Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1. J Clin Immunol. 2021 Jul; 41: 1089-1094.
Kahwash BM, Yonkof JR, Abraham RS, Mustillo PJ, Abu-Arja R, Rangarajan HG, Scherzer R. Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen. Pediatrics. 2021 Jun; 147:
Park MA, Jenkins SM, Smith CY, Pyle RC, Sacco KA, Ryu E, Hagan JB, Joshi AY, Snyder MR, Abraham RS. Pneumococcal serotype-specific cut-offs based on antibody responses to pneumococcal polysaccharide vaccination in healthy adults. Vaccine. 2021 May 18; 39: 2850-2856.
Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. J Clin Immunol. 2021 May; 41: 795-806.
Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol. 2021 Mar 11;
Barmettler S, Coffey K, Smith MJ, Chong HJ, Pozos TC, Seroogy CM, Walter J, Abraham RS. Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID). J Allergy Clin Immunol Pract. 2021 Feb; 9: 723-732.e3.
Abraham RS, Butte MJ. The New “Wholly Trinity” in the Diagnosis and Management of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2021 Feb; 9: 613-625.
Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I. Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. J Infect Dis. 2021 Feb 24; 223: 645-654.
Meyts I, Bucciol G, Quinti I, Neven B, Fischer A, Seoane E, Lopez-Granados E, Gianelli C, Robles-Marhuenda A, Jeandel PY, Paillard C, Sankaran VG, Demirdag YY, Lougaris V, Aiuti A, Plebani A, Milito C, Dalm VA, Guevara-Hoyer K, Sánchez-Ramón S, Bezrodnik L, Barzaghi F, Gonzalez-Granado LI, Hayman GR, Uzel G, Mendonça LO, Agostini C, Spadaro G, Badolato R, Soresina A, Vermeulen F, Bosteels C, Lambrecht BN, Keller M, Mustillo PJ, Abraham RS, Gupta S, Ozen A, Karakoc-Aydiner E, Baris S, Freeman AF, Yamazaki-Nakashimada M, Scheffler-Mendoza S, Espinosa-Padilla S, Gennery AR, Jolles S, Espinosa Y, Poli MC, Fieschi C, Hauck F, Cunningham-Rundles C, Mahlaoui N, IUIS Committee of Inborn Errors of Immunity., Warnatz K, Sullivan KE, Tangye SG. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study. J Allergy Clin Immunol. 2021 Feb; 147: 520-531.
Perelygina L, Faisthalab R, Abernathy E, Chen MH, Hao L, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A, Hajjar J, Vanden Driessche K, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Cunningham Rundles C, Meyer AK, Theos A, Atkinson TP, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12: 796065.
Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD. POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development. J Clin Immunol. 2021 Jan; 41: 270-273.
Abraham RS. How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation. Hematology Am Soc Hematol Educ Program. 2020 Dec 4; 2020: 661-672.
Abraham RS, Marshall JM, Kuehn HS, Rueda CM, Gibbs A, Guider W, Stewart C, Rosenzweig SD, Wang H, Jean S, Peeples M, King T, Hunt WG, Honegger JR, Ramilo O, Mustillo PJ, Mejias A, Ardura MI, Shimamura M. Severe SARS-CoV-2 Disease In The Context Of A NF?B2 Loss-Of-Function Pathogenic Variant. J Allergy Clin Immunol. 2020 Sep 29;
Haddox CL, Carr RM, Abraham RS, Perez Botero J, Rodriguez V, Pardanani A, Patnaik MM. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. Leuk Lymphoma. 2019 Jun 27; 1-5.
Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 May 31;
Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol. 2019 May 1; 78: 460-466.
Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kusnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Mar 12;
Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O’Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK. Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells. J Allergy Clin Immunol. 2019 Feb 6;
Parker AR, Park MA, Harding S, Abraham RS. The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies. Vaccine. 2019 Feb 28; 37: 1350-1355.
Sheen YH, Kizilbash S, Ryoo E, Wi CI, Park M, Abraham RS, Ryu E, Divekar R, Juhn Y. Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination. J Asthma. 2019 Feb 20; 1-10.
Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019; 10: 777.
Hartog NL, Williams KW, Abraham RS. “The State of the Union”: Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases. Front Immunol. 2019; 10: 1783.
Sridharan M, Go RS, Abraham RS, Fervenza FC, Sethi S, Bryant SC, Spears GM, Murray DL, Willrich MAV. Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome. Mayo Clin Proc. 2018 Oct; 93: 1351-1362.
Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M. Short telomere syndromes cause a primary T cell immunodeficiency. J Clin Invest. 2018 Oct 22;
Borzutzky A, Rauter I, Fried A, Rachid R, McDonald DR, Hammarstrom L, Grimbacher B, Abraham RS, Geha RS. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018 Aug 23; 197: 40-44.
Meesing A, Abraham RS, Razonable RR. Clinical Correlation of Cytomegalovirus Infection with CMV-Specific CD8+ T Cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients. Transplantation. 2018 Aug 6;
Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Blood Adv. 2018 Aug 14; 2: 1828-1832.
Rastogi N, Abraham RS, Chadha R, Thakkar D, Kohli S, Nivargi S, Prakash Yadav S. Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. J Pediatr Hematol Oncol. 2018 Aug; 40: e383-e388.
Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93: 834-839.
Perez Botero J, Ho TP, Hogan WJ, Kenderian S, Gangat N, Tefferi A, Abraham RS, Nguyen P, Oliveira JL, He R, Chen D, Viswanatha D, Rodriguez V, Khan SP, Patnaik MM. Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. Br J Haematol. 2018 Jul; 182: 141-145.
Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS, European Society for Immunodeficiencies., Clinical Immunology Society., African Society for Immunodeficiencies., Latin American Society for Immunodeficiencies., Asia Pacific Society for Immunodeficiencies.. The International Alliance of Primary Immune Deficiency Societies. J Clin Immunol. 2018 Jun 5;
Sacco KA, Abraham RS. Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution. Immunotherapy. 2018 Jun; 10: 713-728.
Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38: 540-541.
Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies. J Clin Immunol. 2018 Apr; 38: 307-319.
Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 Apr; 38: 320-329.
Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018 Feb 22; 18: 19.
Dorn JM, Abraham RS, Rodriguez V, Khan SP, Stefanski H, Joshi A. Optimal approach to assessing T-cell function in haematopoietic cell transplant recipients. BMJ Case Rep. 2018 Jan 23; 2018:

Education

Date of Appointment at Nationwide Children’s Hospital: 09/04/2018

Fellowship

Mayo Clinic

Date Completed: 12/31/2002

Graduate School

National Institute of Immunology

Date Completed: 12/31/1996

Education

Date of Appointment at Nationwide Children’s Hospital: 09/04/2018

Fellowship

Mayo Clinic

Date Completed: 12/31/2002

Graduate School

National Institute of Immunology

Date Completed: 12/31/1996

Education

Date of Appointment at Nationwide Children’s Hospital: 09/04/2018

Fellowship

Mayo Clinic

Date Completed: 12/31/2002

Graduate School

National Institute of Immunology

Date Completed: 12/31/1996

Date of Appointment at Nationwide Children’s Hospital: 09/04/2018

Fellowship

Mayo Clinic

Date Completed: 12/31/2002

Graduate School

National Institute of Immunology

Date Completed: 12/31/1996

Date of Appointment at Nationwide Children’s Hospital: 09/04/2018

Fellowship

Mayo Clinic

Date Completed: 12/31/2002

Graduate School

National Institute of Immunology

Date Completed: 12/31/1996

Professional Experience

2019 - Present Jeffrey Modell Foundation for Primary Immunodeficiencies Diagnostic and Research Center at Nationwide Children’s Hospital, Director

Contact Information

Clinical Pathology

Call us at: (614) 722-5329

Email Roshini S Abraham

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Clinical Pathology

Call us at: (614) 722-5329

Email Roshini S Abraham

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Clinical Pathology

Call us at: (614) 722-5329

Email Roshini S Abraham

                    700 Children's DriveColumbus, OH 43205 (map)

Clinical Pathology

Call us at: (614) 722-5329

Email Roshini S Abraham

                    700 Children's DriveColumbus, OH 43205 (map)

Call us at: (614) 722-5329

Email Roshini S Abraham

                    700 Children's DriveColumbus, OH 43205 (map)

Call us at: (614) 722-5329

Email Roshini S Abraham

                    700 Children's DriveColumbus, OH 43205 (map)

Call us at:
(614) 722-5329
Email Roshini S Abraham
700 Children’s DriveColumbus, OH 43205 (map)

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Contact Information