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Research Overview

Raif Geha's lab pursues the molecular basis of inherited immune deficiencies. The Geha lab has established a mouse model of Atopic Dermatitis and is studying the mechanisms of allergic sensitization through the skin and of recruitment of T cells & eosinophils to the skin. The researchers are pursuing several investigational avenues. One seeks to identify the molecular process by which a B cell switches from producing one class of antibody to another. A second explores inherited immune deficiency disorders, with special emphasis on Wiscott-Aldrich Syndrome. A third investigates the molecular basis of atopic dermatitis (AD) a common, an allergic inflammation of the skin that is common, but poorly understood. The lab has created an animal model of AD that may ultimately be used to develop potential drugs. Isotype switching is the mechanism by which a B cell goes from producing one type of antibody to another while maintaining antigenic specificity. This phenomenon allows the immune system to produce various antibody types against the same antigen, but having different effector functions. Isotype switching is a highly orchestrated process with several cytokines and T and B cell surface molecules participating. The Geha laboratory has shown that B cell surface molecules CD40, BAFF and APRIL are important for the switching process, and that defects in these molecules, or in the signaling cascade emanating from them, could potentially lead to immunodeficiency. Geha and colleagues have also shown that C4BP, a complement regulatory protein, binds to CD40 and induces isotype switching. At present, they are studying the role of BAFF and APRIL in isotype switching and antibody affinity maturation. Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency caused by mutation in the gene encoding for the WAS protein (WASP). The Geha group identified a novel cellular negative regulator of WASP they have named WIP. WASP and WIP together regulate most cell functions that require the remodeling of the actin-based cytoskeleton--the structural framework of the cell. The Geha lab is now studying the role of WASP and WIP in immune cell functions that require active cytoskeletal remodeling such as migrating in response to chemical signals and homing. They are also mapping the domains of WASP and WIP that are involved in discrete functions of these molecules. 

 

Research Background

 Raif Geha is a graduate of American University of Beirut, Lebanon. He completed his internship at the American University Hospital in Lebanon, and his residency and a post-graduate fellowship at Boston Children's Hospital.

 

Education

Medical School

American University of Beirut
1969 Beirut Lebanon

Internship

American University of Beirut
1969 Beirut Lebanon

Residency

Boston Children's Hospital
1971 Boston Children's Hospital MA

Fellowship

Boston Children's Hospital
1974 Boston MA

Publications

  1. Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature. Sci Immunol. 2025 Jan 10; 10(103):eadq1697. View Abstract
  2. Germline mutations in a G protein identify signaling cross-talk in T cells. Science. 2024 Sep 20; 385(6715):eadd8947. View Abstract
  3. IL-4 acts on skin-derived dendritic cells to promote the TH2 response to cutaneous sensitization and the development of allergic skin inflammation. J Allergy Clin Immunol. 2024 Dec; 154(6):1462-1471.e3. View Abstract
  4. Reflections on a half century of mentoring. J Allergy Clin Immunol. 2024 Oct; 154(4):917-921. View Abstract
  5. Phosphodiesterase 4 Inhibitors, Basophils, and Atopic Dermatitis. J Invest Dermatol. 2024 May; 144(5):924-926. View Abstract
  6. Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency. Blood Adv. 2024 02 13; 8(3):603-607. View Abstract
  7. Basophils are important for development of allergic skin inflammation. J Allergy Clin Immunol. 2024 May; 153(5):1344-1354.e5. View Abstract
  8. Basophils Play a Protective Role in the Recovery of Skin Barrier Function from Mechanical Injury in Mice. J Invest Dermatol. 2024 Aug; 144(8):1784-1797.e4. View Abstract
  9. Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency. J Allergy Clin Immunol. 2024 Jul; 154(1):143-156. View Abstract
  10. Ant Venom-Based Ceramide Therapy Is Effective Against Atopic Dermatitis In Vivo. J Drugs Dermatol. 2023 Oct 01; 22(10):1001-1006. View Abstract
  11. DOCK8 is essential for neutrophil mediated clearance of cutaneous S. aureus infection. Clin Immunol. 2023 09; 254:109681. View Abstract
  12. IL-4 receptor alpha blockade dampens allergic inflammation and upregulates IL-17A expression to promote Saureus clearance in antigen sensitized mouse skin. J Allergy Clin Immunol. 2023 10; 152(4):907-915. View Abstract
  13. The IL-4Ra Q576R polymorphism is associated with increased severity of atopic dermatitis and exaggerates allergic skin inflammation in mice. J Allergy Clin Immunol. 2023 05; 151(5):1296-1306.e7. View Abstract
  14. The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children. J Clin Invest. 2023 01 03; 133(1). View Abstract
  15. NFKB2 haploinsufficiency identified via screening for IFN-a2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications. J Allergy Clin Immunol. 2023 04; 151(4):926-930.e2. View Abstract
  16. Immune dysregulation caused by homozygous mutations in CBLB. J Clin Invest. 2022 10 17; 132(20). View Abstract
  17. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2023 01; 11(1):158-180.e11. View Abstract
  18. A homozygous truncating mutation of FGL2 is associated with immune dysregulation. J Allergy Clin Immunol. 2023 02; 151(2):572-578.e1. View Abstract
  19. Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry. Clin Immunol. 2022 11; 244:109131. View Abstract
  20. Author Correction: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol. 2022 May; 23(5):815. View Abstract
  21. Inborn Errors of the Immune System Associated With Atopy. Front Immunol. 2022; 13:860821. View Abstract
  22. Linker-Improved Chimeric Endolysin Selectively Kills Staphylococcus aureus In Vitro, on Reconstituted Human Epidermis, and in a Murine Model of Skin Infection. Antimicrob Agents Chemother. 2022 05 17; 66(5):e0227321. View Abstract
  23. Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children. Res Sq. 2022 Apr 11. View Abstract
  24. Single-cell transcriptome profile of mouse skin undergoing antigen-driven allergic inflammation recapitulates findings in atopic dermatitis skin lesions. J Allergy Clin Immunol. 2022 08; 150(2):373-384. View Abstract
  25. Basophil-derived IL-4 promotes cutaneous Staphylococcus aureus infection. JCI Insight. 2021 11 08; 6(21). View Abstract
  26. Cutaneous Type 2 Innate Lymphoid Cells Come in Distinct Flavors. JID Innov. 2021 Sep; 1(3):100059. View Abstract
  27. Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor ??B kinase alpha (IKKa). Sci Immunol. 2021 Sep 17; 6(63):eabf6723. View Abstract
  28. TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells. JCI Insight. 2021 09 08; 6(17). View Abstract
  29. Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C). J Allergy Clin Immunol. 2021 09; 148(3):732-738.e1. View Abstract
  30. Basophil: The cell that itches. J Allergy Clin Immunol. 2021 09; 148(3):708-709. View Abstract
  31. Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma. Nat Immunol. 2021 Jun; 22(6):794-795. View Abstract
  32. Consensus Middle East and North Africa Registry on Inborn Errors of Immunity. J Clin Immunol. 2021 08; 41(6):1339-1351. View Abstract
  33. Macabre TH2 skewing in DOCK8 deficiency. J Allergy Clin Immunol. 2021 07; 148(1):73-75. View Abstract
  34. Multi-kingdom ecological drivers of microbiota assembly in preterm infants. Nature. 2021 03; 591(7851):633-638. View Abstract
  35. Combined immunodeficiency due to a mutation in the ?1 subunit of the coat protein I complex. J Clin Invest. 2021 02 01; 131(3). View Abstract
  36. Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma. Nat Immunol. 2021 Jan; 22(1):100. View Abstract
  37. Mast cell-derived IL-13 downregulates IL-12 production by skin dendritic cells to inhibit the TH1 cell response to cutaneous antigen exposure. J Allergy Clin Immunol. 2021 06; 147(6):2305-2315.e3. View Abstract
  38. Successful hematopoietic stem cell transplantation in a 4-1BB deficient patient with EBV-induced lymphoproliferation. Clin Immunol. 2021 01; 222:108639. View Abstract
  39. DOCK8 Expression in Regulatory T Cells Maintains their Stability and Limits Contact Hypersensitivity. J Invest Dermatol. 2021 06; 141(6):1503-1511.e3. View Abstract
  40. Transferrin receptor 1 is a cellular receptor for human heme-albumin. Commun Biol. 2020 10 27; 3(1):621. View Abstract
  41. Hematopoietic Stem Cell Transplantation Is a Curative Therapy for Transferrin Receptor 1 (TFRC) Deficiency. J Allergy Clin Immunol Pract. 2021 02; 9(2):753-759.e2. View Abstract
  42. A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthma. Nat Immunol. 2020 11; 21(11):1359-1370. View Abstract
  43. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency. J Allergy Clin Immunol. 2021 02; 147(2):723-726. View Abstract
  44. Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol. 2020 11; 146(5):1194-1200.e1. View Abstract
  45. APRIL expression is upregulated in atopic dermatitis skin lesions and at sites of antigen driven allergic skin inflammation in mice. Clin Immunol. 2020 10; 219:108556. View Abstract
  46. DOCK8 is essential for LFA-1-dependent positioning of T follicular helper cells in germinal centers. JCI Insight. 2020 08 06; 5(15). View Abstract
  47. Acetaminophen Inhibits the Neutrophil Oxidative Burst: Implications for Diagnostic Testing. J Allergy Clin Immunol Pract. 2020 Nov - Dec; 8(10):3543-3548. View Abstract
  48. ITK deficiency presenting as autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2021 02; 147(2):743-745.e1. View Abstract
  49. Inherited human IFN-? deficiency underlies mycobacterial disease. J Clin Invest. 2020 06 01; 130(6):3158-3171. View Abstract
  50. Immunoglobulins in the treatment of COVID-19 infection: Proceed with caution! Clin Immunol. 2020 07; 216:108459. View Abstract
  51. Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome. J Allergy Clin Immunol. 2020 11; 146(5):1165-1179.e11. View Abstract
  52. ILC2 activation by keratinocyte-derived IL-25 drives IL-13 production at sites of allergic skin inflammation. J Allergy Clin Immunol. 2020 06; 145(6):1606-1614.e4. View Abstract
  53. Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency. J Allergy Clin Immunol. 2020 06; 145(6):1696-1699.e6. View Abstract
  54. Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol. 2020 06; 145(6):1664-1672.e10. View Abstract
  55. Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation. J Allergy Clin Immunol. 2020 07; 146(1):192-202. View Abstract
  56. Dysregulated actin dynamics in activated PI3Kd syndrome. Clin Immunol. 2020 01; 210:108311. View Abstract
  57. A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation. Clin Immunol. 2019 10; 207:40-42. View Abstract
  58. Combined immunodeficiency in a patient with c-Rel deficiency. J Allergy Clin Immunol. 2019 08; 144(2):606-608.e4. View Abstract
  59. A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis. J Allergy Clin Immunol. 2019 08; 144(2):611-613.e3. View Abstract
  60. Mechanical Skin Injury Promotes Food Anaphylaxis by Driving Intestinal Mast Cell Expansion. Immunity. 2019 05 21; 50(5):1262-1275.e4. View Abstract
  61. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Jul - Aug; 7(6):1970-1985.e4. View Abstract
  62. Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency. J Allergy Clin Immunol. 2019 08; 144(2):574-583.e5. View Abstract
  63. Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan. Clin Immunol. 2019 05; 202:29-32. View Abstract
  64. T-cell mitochondrial dysfunction and lymphopenia in DOCK2-deficient patients. J Allergy Clin Immunol. 2019 07; 144(1):306-309.e2. View Abstract
  65. F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects. J Allergy Clin Immunol. 2019 06; 143(6):2317-2321.e12. View Abstract
  66. Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population. Front Immunol. 2018; 9:3146. View Abstract
  67. A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. J Allergy Clin Immunol. 2019 04; 143(4):1649-1653.e3. View Abstract
  68. Report from the National Institute of Allergy and Infectious Diseases workshop on "Atopic dermatitis and the atopic march: Mechanisms and interventions". J Allergy Clin Immunol. 2019 03; 143(3):894-913. View Abstract
  69. Primary immunodeficiencies caused by mutations in actin regulatory proteins. Immunol Rev. 2019 01; 287(1):121-134. View Abstract
  70. Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turk J Pediatr. 2019; 61(3):413-417. View Abstract
  71. Immunologic reconstitution following hematopoietic stem cell transplantation despite lymph node paucity in NF-?B-inducing kinase deficiency. J Allergy Clin Immunol. 2019 03; 143(3):1240-1243.e4. View Abstract
  72. Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency. J Allergy Clin Immunol Pract. 2019 03; 7(3):848-855. View Abstract
  73. Human primary immunodeficiency caused by expression of a kinase-dead p110d mutant. J Allergy Clin Immunol. 2019 02; 143(2):797-799.e2. View Abstract
  74. Injury, dysbiosis, and filaggrin deficiency drive skin inflammation through keratinocyte IL-1a release. J Allergy Clin Immunol. 2019 04; 143(4):1426-1443.e6. View Abstract
  75. Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice. JCI Insight. 2018 08 23; 3(16). View Abstract
  76. Defective TLR9-driven STAT3 activation in B cells of patients with CVID. Clin Immunol. 2018 12; 197:40-44. View Abstract
  77. MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice. Clin Immunol. 2018 10; 195:88-92. View Abstract
  78. Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan. Clin Immunol. 2019 01; 198:100-101. View Abstract
  79. The Lack of WIP Binding to Actin Results in Impaired B Cell Migration and Altered Humoral Immune Responses. Cell Rep. 2018 07 17; 24(3):619-629. View Abstract
  80. IL-22 promotes allergic airway inflammation in epicutaneously sensitized mice. J Allergy Clin Immunol. 2019 02; 143(2):619-630.e7. View Abstract
  81. WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis. Nat Commun. 2018 05 03; 9(1):1779. View Abstract
  82. RORa-expressing T regulatory cells restrain allergic skin inflammation. Sci Immunol. 2018 03 02; 3(21). View Abstract
  83. Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. Clin Immunol. 2018 03; 188:20-22. View Abstract
  84. Staphylococcus aureus Epicutaneous Exposure Drives Skin Inflammation via IL-36-Mediated T Cell Responses. Cell Host Microbe. 2017 Nov 08; 22(5):653-666.e5. View Abstract
  85. A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations. J Clin Invest. 2017 12 01; 127(12):4415-4420. View Abstract
  86. DOCK8 Deficiency Presenting as an IPEX-Like Disorder. J Clin Immunol. 2017 Nov; 37(8):811-819. View Abstract
  87. DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile. Clin Immunol. 2018 02; 187:68-75. View Abstract
  88. DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs. JCI Insight. 2017 10 05; 2(19). View Abstract
  89. A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis. Clin Immunol. 2017 10; 183:198-200. View Abstract
  90. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018 04; 141(4):1450-1458. View Abstract
  91. DOCK8 and STAT3 dependent inhibition of IgE isotype switching by TLR9 ligation in human B cells. Clin Immunol. 2017 10; 183:263-265. View Abstract
  92. Advances in basic and clinical immunology in 2016. J Allergy Clin Immunol. 2017 Oct; 140(4):959-973. View Abstract
  93. Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. Clin Immunol. 2017 10; 183:142-144. View Abstract
  94. Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies. Front Immunol. 2017; 8:847. View Abstract
  95. Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature. Clin Immunol. 2017 10; 183:201-206. View Abstract
  96. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J Allergy Clin Immunol. 2018 03; 141(3):1060-1073.e3. View Abstract
  97. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med. 2017 Jul 03; 214(7):1937-1947. View Abstract
  98. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. J Allergy Clin Immunol. 2018 03; 141(3):1050-1059.e10. View Abstract
  99. The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils. Front Pharmacol. 2017; 8:262. View Abstract
  100. Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. J Clin Immunol. 2017 07; 37(5):415-418. View Abstract
  101. 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 Dec; 140(6):1651-1659.e1. View Abstract
  102. Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site. J Allergy Clin Immunol. 2017 07; 140(1):268-271.e6. View Abstract
  103. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest. 2016 11 01; 126(11):4219-4236. View Abstract
  104. A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton. J Clin Invest. 2016 10 03; 126(10):3837-3851. View Abstract
  105. Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice. J Allergy Clin Immunol. 2017 Apr; 139(4):1293-1301.e4. View Abstract
  106. Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. J Allergy Clin Immunol. 2017 01; 139(1):372-375.e4. View Abstract
  107. IL-23 induced in keratinocytes by endogenous TLR4 ligands polarizes dendritic cells to drive IL-22 responses to skin immunization. J Exp Med. 2016 09 19; 213(10):2147-66. View Abstract
  108. Mutations in pyrin masquerading as a primary immunodeficiency. Clin Immunol. 2016 Oct; 171:65-66. View Abstract
  109. IL-22 derived from ?d T cells restricts Staphylococcus aureus infection of mechanically injured skin. J Allergy Clin Immunol. 2016 10; 138(4):1098-1107.e3. View Abstract
  110. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016 10; 138(4):1142-1151.e2. View Abstract
  111. Staphylococcus aureus Exploits Epidermal Barrier Defects in Atopic Dermatitis to Trigger Cytokine Expression. J Invest Dermatol. 2016 11; 136(11):2192-2200. View Abstract
  112. IL-33 promotes food anaphylaxis in epicutaneously sensitized mice by targeting mast cells. J Allergy Clin Immunol. 2016 11; 138(5):1356-1366. View Abstract
  113. Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation. J Allergy Clin Immunol. 2016 11; 138(5):1384-1394.e2. View Abstract
  114. Hyper IgM Syndrome: a Report from the USIDNET Registry. J Clin Immunol. 2016 07; 36(5):490-501. View Abstract
  115. Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. Clin Immunol. 2016 05; 166-167:100-2. View Abstract
  116. Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2016 09; 138(3):852-859.e3. View Abstract
  117. Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. J Allergy Clin Immunol. 2016 07; 138(1):297-299. View Abstract
  118. O-008 Aberrant Anti-inflammatory Macrophage Function and Differentiation in Wiskott-Aldrich Syndrome Protein-Deficient Mice and Humans. Inflamm Bowel Dis. 2016 Mar; 22 Suppl 1:S3. View Abstract
  119. Thymic stromal lymphopoietin and IL-33 promote skin inflammation and vaccinia virus replication in a mouse model of atopic dermatitis. J Allergy Clin Immunol. 2016 07; 138(1):283-286. View Abstract
  120. Spectrum of Phenotypes Associated with Mutations in LRBA. J Clin Immunol. 2016 Jan; 36(1):33-45. View Abstract
  121. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. View Abstract
  122. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol. 2016 Mar; 137(3):879-88.e2. View Abstract
  123. Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. J Allergy Clin Immunol. 2016 Jan; 137(1):324-327.e2. View Abstract
  124. 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 Oct 20; 43(4):660-73. View Abstract
  125. Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J Allergy Clin Immunol. 2015 Nov; 136(5):1401-4.e1-3. View Abstract
  126. Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum. J Allergy Clin Immunol. 2015 Dec; 136(6):1591-1600. View Abstract
  127. A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection. Clin Immunol. 2015 Dec; 161(2):128-30. View Abstract
  128. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18; 372(25):2409-22. View Abstract
  129. A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function. J Allergy Clin Immunol. 2015 Aug; 136(2):479-482.e1. View Abstract
  130. The Rho GTPase Cdc42 Is Essential for the Activation and Function of Mature B Cells. J Immunol. 2015 May 15; 194(10):4750-8. View Abstract
  131. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015 Aug; 136(2):402-12. View Abstract
  132. A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. J Allergy Clin Immunol. 2015 Sep; 136(3):794-797.e1. View Abstract
  133. Filaggrin deficiency promotes the dissemination of cutaneously inoculated vaccinia virus. J Allergy Clin Immunol. 2015 Jun; 135(6):1511-8.e6. View Abstract
  134. Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in I?Ba. J Exp Med. 2015 Feb 09; 212(2):185-202. View Abstract
  135. The microbiota is important for IL-17A expression and neutrophil infiltration in lesional skin of Flg(ft/ft) mice. Clin Immunol. 2015 Feb; 156(2):128-30. View Abstract
  136. 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 Jan; 135(1):217-27. View Abstract
  137. Binding of WIP to actin is essential for T cell actin cytoskeleton integrity and tissue homing. Mol Cell Biol. 2014 Dec 01; 34(23):4343-54. View Abstract
  138. Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells. J Allergy Clin Immunol. 2014 Dec; 134(6):1365-1374. View Abstract
  139. A novel mutation in FOXN1 resulting in SCID: a case report and literature review. Clin Immunol. 2014 Nov; 155(1):30-32. View Abstract
  140. The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. J Allergy Clin Immunol. 2014 Aug; 134(2):276-84. View Abstract
  141. CCL25/CCR9 interactions are not essential for colitis development but are required for innate immune cell protection from chronic experimental murine colitis. Inflamm Bowel Dis. 2014 Jul; 20(7):1165-76. View Abstract
  142. Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. J Allergy Clin Immunol. 2014 Oct; 134(4):983-5.e1. View Abstract
  143. A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity. Clin Immunol. 2014 Aug; 153(2):288-91. View Abstract
  144. Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype. J Allergy Clin Immunol. 2014 Jun; 133(6):1667-75. View Abstract
  145. Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-a 2b therapy. J Allergy Clin Immunol. 2014 Jun; 133(6):1753-5.e3. View Abstract
  146. Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function. J Exp Med. 2014 May 05; 211(5):929-42. View Abstract
  147. Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol. 2014 Jul; 134(1):223-6. View Abstract
  148. Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency. J Allergy Clin Immunol. 2014 Jul; 134(1):221-3. View Abstract
  149. TRIF signaling is essential for TLR4-driven IgE class switching. J Immunol. 2014 Mar 15; 192(6):2651-8. View Abstract
  150. Food allergy: Insights into etiology, prevention, and treatment provided by murine models. J Allergy Clin Immunol. 2014 Feb; 133(2):309-17. View Abstract
  151. Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis. Clin Immunol. 2014 Feb; 150(2):220-4. View Abstract
  152. A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. J Allergy Clin Immunol. 2014 Apr; 133(4):1099-108. View Abstract
  153. Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2014 Aug; 134(2):262-8. View Abstract
  154. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013 Jul; 132(1):151-8. View Abstract
  155. T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation. J Allergy Clin Immunol. 2013 Sep; 132(3):648-655.e1. View Abstract
  156. C3a receptor promotes viral containment in mice inoculated with vaccinia virus at sites of allergic skin inflammation. J Allergy Clin Immunol. 2013 Sep; 132(3):746-748.e3. View Abstract
  157. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol. 2013 Aug; 33(6):1078-87. View Abstract
  158. Development of skin lesions in filaggrin-deficient mice is dependent on adaptive immunity. J Allergy Clin Immunol. 2013 Apr; 131(4):1247-50, 1250.e1. View Abstract
  159. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci. 2013 May; 1285:26-43. View Abstract
  160. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2013 Mar; 131(3):840-8. View Abstract
  161. Epicutaneous sensitization results in IgE-dependent intestinal mast cell expansion and food-induced anaphylaxis. J Allergy Clin Immunol. 2013 Feb; 131(2):451-60.e1-6. View Abstract
  162. Filaggrin-dependent secretion of sphingomyelinase protects against staphylococcal a-toxin-induced keratinocyte death. J Allergy Clin Immunol. 2013 Feb; 131(2):421-7.e1-2. View Abstract
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