Raif S Geha


Affiliation: Harvard University
Country: USA


  1. Alosaimi M, Hoenig M, Jaber F, Platt C, Jones J, Wallace J, et al. Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency. J Allergy Clin Immunol. 2019;: pubmed publisher
    ..This novel immunodeficiency demonstrates the critical role of 4-1BB costimulation in host immunity against EBV infection. ..
  2. Lougaris V, Chou J, Beano A, Wallace J, Baronio M, Gazzurelli L, et al. A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. J Allergy Clin Immunol. 2019;: pubmed publisher
    ..A heterozygous gain-of-function mutation in RAC2 is associated with an autosomal dominant combined immunodeficiency. ..
  3. Borzutzky A, Rauter I, Fried A, Rachid R, McDonald D, Hammarstrom L, et al. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018;197:40-44 pubmed publisher
    ..These results suggest that defective STAT3 activation contributes to the defective TLR9 and antibody response of B cells in CVID. ..
  4. Hoff S, Oyoshi M, Hornick J, Geha R. MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice. Clin Immunol. 2018;195:88-92 pubmed publisher
    ..These results suggest that MyD88 signaling in Treg cells by endogenous ligands attenuates skin inflammation in filaggrin deficiency. ..
  5. Mooster J, Le Bras S, Massaad M, Jabara H, Yoon J, Galand C, et al. Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα. J Exp Med. 2015;212:185-202 pubmed publisher
    ..Defective architectural cell function explains the immunodeficiency and poor outcome of HSCT in patients with IκBα deficiency and suggests that correction of this niche is critical for reconstituting their immune function. ..
  6. Chou J, Hsu J, Bainter W, Al Attiyah R, Al Herz W, Geha R. A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection. Clin Immunol. 2015;161:128-30 pubmed publisher
    ..This report highlights the importance of considering CGD in patients who present initially exclusively with autoimmune disease. ..
  7. Leyva Castillo J, Yoon J, Geha R. IL-22 promotes allergic airway inflammation in epicutaneously sensitized mice. J Allergy Clin Immunol. 2019;143:619-630.e7 pubmed publisher
    ..Epicutaneous sensitization promotes generation of antigen-specific IL-22-producing T cells that promote airway inflammation and AHR after antigen challenge, suggesting that IL-22 plays an important role in the atopic march. ..
  8. Malhotra N, Yoon J, Leyva Castillo J, Galand C, Archer N, Miller L, et al. IL-22 derived from ?? T cells restricts Staphylococcus aureus infection of mechanically injured skin. J Allergy Clin Immunol. 2016;138:1098-1107.e3 pubmed publisher
    ..These findings show that IL-22 is important for limiting the growth of S aureus on mechanically injured skin and caution that IL-23 and IL-22 blockade in patients with AD may enhance susceptibility to staphylococcal skin infection. ..
  9. Badran Y, Rajab M, Hanna Wakim R, Bainter W, Cangemi B, Massaad M, et al. Mutations in pyrin masquerading as a primary immunodeficiency. Clin Immunol. 2016;171:65-66 pubmed publisher
    ..They were investigated by whole exome sequencing due to suspicion of primary immunodeficiency and found to have mutations in pyrin known to cause familial Mediterranean fever. ..

More Information


  1. Badran Y, Massaad M, Bainter W, Cangemi B, Naseem S, Javad H, et al. Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. Clin Immunol. 2016;166-167:100-2 pubmed publisher
  2. Günaydin N, Chou J, Karaca N, Aksu G, Massaad M, Azarsiz E, et al. A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity. Clin Immunol. 2014;153:288-91 pubmed publisher
    ..This case highlights the variability in the clinical evolution and phenotype of CD40L deficiency. ..
  3. Galand C, Leyva Castillo J, Yoon J, Han A, Lee M, McKenzie A, et al. IL-33 promotes food anaphylaxis in epicutaneously sensitized mice by targeting mast cells. J Allergy Clin Immunol. 2016;138:1356-1366 pubmed publisher
    ..IL-33 neutralization might be useful in treating food-induced anaphylaxis in patients with AD. ..
  4. Kumar L, Lu B, Gerard C, Geha R. C3a receptor promotes viral containment in mice inoculated with vaccinia virus at sites of allergic skin inflammation. J Allergy Clin Immunol. 2013;132:746-748.e3 pubmed publisher
  5. Jabara H, Lee J, Janssen E, Ullas S, Liadaki K, Garibyan L, et al. Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice. J Allergy Clin Immunol. 2017;139:1293-1301.e4 pubmed publisher
    ..These results suggest that TACI A181E heterozygosity results in TACI haploinsufficiency with increased susceptibility to pneumococcal infection. This has important implications for asymptomatic TACI A181E carriers. ..
  6. Abolhassani H, Chou J, Bainter W, Platt C, Tavassoli M, Momen T, et al. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018;141:1450-1458 pubmed publisher
    ..The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients. ..
  7. Janssen E, Morbach H, Ullas S, Bannock J, Massad C, Menard L, et al. Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells. J Allergy Clin Immunol. 2014;134:1365-1374 pubmed publisher
    ..Our data support a critical role for DOCK8 in Treg cell homeostasis and function and the enforcement of peripheral B-cell tolerance. ..
  8. Chou J, Massaad M, Wakim R, Bainter W, Dbaibo G, Geha R. A novel mutation in FOXN1 resulting in SCID: a case report and literature review. Clin Immunol. 2014;155:30-2 pubmed publisher
  9. Yoon J, Leyva Castillo J, Wang G, Galand C, Oyoshi M, Kumar L, et al. IL-23 induced in keratinocytes by endogenous TLR4 ligands polarizes dendritic cells to drive IL-22 responses to skin immunization. J Exp Med. 2016;213:2147-66 pubmed publisher
    ..We also show that IL-23 is released in human skin after scratching and polarizes human skin DCs to drive an IL-22 response, supporting the utility of IL-23 and IL-22 blockade in AD. ..
  10. Platt C, Chou J, Houlihan P, Badran Y, Kumar L, Bainter W, et al. Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function. J Allergy Clin Immunol. 2017;140:1651-1659.e1 pubmed publisher
    ..LRRC8A-dependent VRAC activity is dispensable for T-cell development and function. ..
  11. Petersheim D, Massaad M, Lee S, Scarselli A, Cancrini C, Moriya K, et al. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J Allergy Clin Immunol. 2018;141:1060-1073.e3 pubmed publisher
    ..IκBα point mutants accumulate at higher levels compared with truncation mutants and are associated with more severe disease and greater impairment of canonical and noncanonical NF-κB activity in patients with AD EDA-ID. ..
  12. Platt C, Fried A, Hoyos Bachiloglu R, Usmani G, Schmidt B, Whangbo J, et al. 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 publisher
    ..The severity of the disease and the development of EBV lymphoma in both patients suggest that hematopoietic stem cell transplantation should be performed rapidly in patients with RASGRP1 deficiency. ..
  13. Massaad M, Oyoshi M, Kane J, Koduru S, Alcaide P, Nakamura F, et al. Binding of WIP to actin is essential for T cell actin cytoskeleton integrity and tissue homing. Mol Cell Biol. 2014;34:4343-54 pubmed publisher
    ..Disruption of WIP binding to actin could be of therapeutic value in T cell-driven inflammatory diseases. ..
  14. Yee C, Massaad M, Bainter W, Ohsumi T, Föger N, Chan A, et al. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol. 2016;137:879-88.e2 pubmed publisher
    ..Our studies demonstrate the importance of intact CORO1A C-terminal domains in thymic egress and T-cell survival, as well as in defense against viral pathogens. ..