Photo of Raif S. Geha,  MD

Raif S. Geha, MD

Boston Children's Hospital

Boston Children's Hospital
Phone: (617) 355-7602
Fax: (617) 355-8205


Raif.Geha@childrens.harvard.edu

Raif S. Geha, MD

Boston Children's Hospital

EDUCATIONAL TITLES

  • James L. Gamble Professor, Pediatrics, Harvard Medical School
  • Division Chief, Immunology/Allergy, Boston Children's Hospital

DF/HCC PROGRAM AFFILIATION

Research Abstract

I have been studying primary immunodeficiency disease for almost 40 years. I have extensive experience in the characterization of PIDs including examination of molecular aspects and signal transduction pathways and have developed a number of transgenic mouse models of PIDs. I have also described a number of genes the mutations of which cause or contribute to PIDs. As Immunology Division Chief at Children’s I am responsible for overseeing both the clinical care and research on patients with primary immunodeficiency. In this function, I see many patients with immunodeficiency syndromes of unclear etiology. I have also trained a large number of now independent investigators in the PID field. Many PIDS are associated with auto-immunity and cancer in lymphoid and non lymphoid tissues I am interested in investigation the mechanisms by which PIDs lead to these 2 complications

Publications

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  • Janssen E, Kumari S, Tohme M, Ullas S, Barrera V, Tas JM, Castillo-Rama M, Bronson RT, Usmani SM, Irvine DJ, Mempel TR, Geha RS. DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs. JCI Insight 2017. PubMed
  • Chinen J, Badran YR, Geha RS, Chou JS, Fried AJ. Advances in basic and clinical immunology in 2016. J Allergy Clin Immunol 2017; 140:959-973. PubMed
  • Massaad MJ, Cangemi B, Al-Herz W, LeFranc G, Freeman A, Baxi S, Keles S, Metin A, Dasouki M, Sobh A, Kanariou M, Al-Sukaiti N, Ozen A, Ochs H, Chatila TA, Manis JP, Geha R. DOCK8 and STAT3 dependent inhibition of IgE isotype switching by TLR9 ligation in human B cells. Clin Immunol 2017. PubMed
  • Platt CD, Fried AJ, Hoyos-Bachiloglu R, Usmani GN, Schmidt B, Whangbo J, Chiarle R, Chou J, Geha RS. Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. Clin Immunol 2017; 183:142-144. PubMed
  • Badran YR, Dedeoglu F, Leyva Castillo JM, Bainter W, Ohsumi TK, Bousvaros A, Goldsmith JD, Geha RS, Chou J. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med 2017; 214:1937-1947. PubMed
  • Alroqi FJ, Charbonnier LM, Baris S, Kiykim A, Chou J, Platt CD, Algassim A, Keles S, Al Saud BK, Alkuraya FS, Jordan M, Geha RS, Chatila TA. Exaggerated T Follicular Helper Cell Responses in LRBA Deficiency Due to Failure of CTLA4-Mediated Regulation. J Allergy Clin Immunol 2017. PubMed
  • Platt CD, Chou J, Houlihan P, Badran YR, Kumar L, Bainter W, Poliani PL, Perez CJ, Dent SY, Clapham DE, Benavides F, Geha RS. LRRC8A-dependent volume regulated anion channel activity is dispensable for T cell development and function. J Allergy Clin Immunol 2017. PubMed
  • Behe P, Foote JR, Levine AP, Platt CD, Chou J, Benavides F, Geha RS, Segal AW. The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils. Front Pharmacol 2017; 8:262. PubMed
  • Seleman M, Hoyos-Bachiloglu R, Geha RS, Chou J. Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies. 2017; 8:847. PubMed
  • Platt CD, Massaad MJ, Cangemi B, Schmidt B, Aldhekri H, Geha RS. JAK3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site. J Allergy Clin Immunol 2016. PubMed
  • Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest 2016; 126:4219-4236. PubMed
  • Janssen E, Tohme M, Hedayat M, Leick M, Kumari S, Ramesh N, Massaad MJ, Ullas S, Azcutia V, Goodnow CC, Randall KL, Qiao Q, Wu H, Al-Herz W, Cox D, Hartwig J, Irvine DJ, Luscinskas FW, Geha RS. A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton. J Clin Invest 2016; 126:3837-3851. PubMed
  • Leven EA, Maffucci P, Ochs HD, Scholl PR, Buckley RH, Fuleihan RL, Geha RS, Cunningham CK, Bonilla FA, Conley ME, Ferdman RM, Hernandez-Trujillo V, Puck JM, Sullivan K, Secord EA, Ramesh M, Cunningham-Rundles C. Hyper IgM Syndrome: a Report from the USIDNET Registry. J Clin Immunol 2016; 36:490-501. PubMed
  • Keles S, Charbonnier LM, Kabaleeswaran V, Reisli I, Genel F, Gulez N, Al-Herz W, Ramesh N, Perez-Atayde A, Eeder NK, Kutukculer N, Wu H, Geha RS, Chatila TA. Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation. J Allergy Clin Immunol 2016. PubMed
  • Al-Herz W, Chu JI, van der Spek J, Raghupathy R, Massaad MJ, Keles S, Biggs CM, Cockerton L, Chou J, Dbaibo G, Elisofon SA, Hanna-Wakim R, Kim HB, Lehmann LE, McDonald DR, Notarangelo LD, Veys P, Chatila TA, Geha RS, Gaspar HB, Pai SY. Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 2016. PubMed
  • Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet 2015. PubMed
  • Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, Aldave Becerra JC, Buchbinder D, Chou J, Geha RS, Kanariou M, King A, Mazza C, Moratto D, Sokolic R, Garabedian E, Porta F, Putti MC, Wakim RH, Tsitsikov E, Pai SY, Notarangelo LD. Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J Allergy Clin Immunol 2015. PubMed
  • Keppler SJ, Gasparrini F, Burbage M, Aggarwal S, Frederico B, Geha RS, Way M, Bruckbauer A, Batista FD. Wiskott-Aldrich Syndrome Interacting Protein Deficiency Uncovers the Role of the Co-receptor CD19 as a Generic Hub for PI3 Kinase Signaling in B Cells. Immunity 2015; 43:660-73. PubMed
  • Yee CS, Massaad MJ, Bainter W, Ohsumi TK, Föger N, Chan AC, Akarsu NA, Aytekin C, Ayvaz DÇ, Tezcan I, Sanal Ö, Geha RS, Chou J. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol 2015. PubMed
  • Sobh A, Crestani E, Cangemi B, Kane J, Chou J, Pai SY, Notarangelo LD, El-Herz W, Geha RS, Massaad MJ. Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. J Allergy Clin Immunol 2015. PubMed
  • Chou J, Massaad MJ, Cangemi B, Bainter W, Platt C, Badran YR, Raphael BP, Kamin DS, Goldsmith JD, Pai SY, Al-Herz W, Geha RS. A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. J Allergy Clin Immunol 2015. PubMed
  • Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 2015. PubMed
  • Gerasimcik N, Dahlberg CI, Baptista MA, Massaad MJ, Geha RS, Westerberg LS, Severinson E. The Rho GTPase Cdc42 Is Essential for the Activation and Function of Mature B Cells. J Immunol 2015; 194:4750-8. PubMed
  • Mooster JL, Le Bras S, Massaad MJ, Jabara H, Yoon J, Galand C, Heesters BA, Burton OT, Mattoo H, Manis J, Geha RS. Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα. J Exp Med 2015; 212:185-202. PubMed
  • Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH, . DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol 2015; 35:189-98. PubMed
  • Hoff S, Oyoshi MK, Macpherson A, Geha RS. The microbiota is important for IL-17A expression and neutrophil infiltration in lesional skin of Flg(ft/ft) mice. Clin Immunol 2015; 156:128-30. PubMed
  • Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G, Alangari AA, Alsultan A, Al-Zahrani D, Geha RS, Chatila TA. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol 2015; 135:217-27. PubMed
  • Massaad MJ, Oyoshi MK, Kane J, Koduru S, Alcaide P, Nakamura F, Ramesh N, Luscinskas FW, Hartwig J, Geha RS. Binding of WIP to actin is essential for T cell actin cytoskeleton integrity and tissue homing. Mol Cell Biol 2014. PubMed
  • Janssen E, Morbach H, Ullas S, Bannock JM, Massad C, Menard L, Barlan I, Lefranc G, Su H, Dasouki M, Al-Herz W, Keles S, Chatila T, Geha RS, Meffre E. Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells. J Allergy Clin Immunol 2014. PubMed
  • Chou J, Massaad MJ, Wakim RH, Bainter W, Dbaibo G, Geha RS. A novel mutation in FOXN1 resulting in SCID: a case report and literature review. Clin Immunol 2014; 155:30-2. PubMed
  • Hedayat M, Massaad MJ, Lee YN, Conley ME, Orange JS, Ohsumi TK, Al-Herz W, Notarangelo LD, Geha RS, Chou J. Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. J Allergy Clin Immunol 2014; 134:983-5.e1. PubMed
  • Günaydin NC, Chou J, Karaca NE, Aksu G, Massaad MJ, Azarsiz E, Ertan Y, Geha RS, Kütükçüler N. A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity. Clin Immunol 2014; 153:288-91. PubMed
  • Platt C, Geha RS, Chou J. Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies. J Allergy Clin Immunol 2014; 134:262-8. PubMed
  • Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K. The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. J Allergy Clin Immunol 2014; 134:276-84. PubMed
  • Pai SY, de Boer H, Massaad MJ, Chatila TA, Keles S, Jabara HH, Janssen E, Lehmann LE, Hanna-Wakim R, Dbaibo G, McDonald DR, Al-Herz W, Geha RS. Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency. J Allergy Clin Immunol 2014. PubMed
  • Chou J, Lutskiy M, Tsitsikov E, Notarangelo LD, Geha RS, Dioun A. Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol 2014; 134:223-6. PubMed
  • Keles S, Jabara HH, Reisli I, McDonald DR, Barlan I, Hanna-Wakim R, Dbaibo G, Lefranc G, Al-Herz W, Geha RS, Chatila TA. Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy. J Allergy Clin Immunol 2014; 133:1753-5.e3. PubMed
  • Jing H, Zhang Q, Zhang Y, Hill BJ, Dove CG, Gelfand EW, Atkinson TP, Uzel G, Matthews HF, Mustillo PJ, Lewis DB, Kavadas FD, Hanson IC, Kumar AR, Geha RS, Douek DC, Holland SM, Freeman AF, Su HC. Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype. J Allergy Clin Immunol 2014; 133:1667-75. PubMed
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