ArticleScience immunology2022
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with
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Article in Science immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28citing papers in PubMed
4.3field-weighted citation impact, top 4% of its field
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Who cites it
28 citing papers in PubMed, 39 citations in OpenAlex.
- Innate immunity: current understandings and future perspectives.Signal transduction and targeted therapy · 2026Review
- Monogenic autoimmune and autoinflammatory disorders in adulthood: recent discoveries and implications for rheumatology practice.Rheumatology (Oxford, England) · 2026Review
- Syk inhibition limits autoimmunity and abnormal B cell phenotype and function in mice with B cell-specific TRAF3 deficiency.Journal of immunology (Baltimore, Md. : 1950) · 2026Article
- The Effect of Low Socioeconomic Status on the Leptin-to-Adiponectin Ratio.Nursing open · 2026Review
- Human inborn errors of the alternative NF-κB pathway.Journal of human immunity · 2026Review
- Personalized Management of Chronic Rhinosinusitis in the Context of Immune Deficiency.Journal of inflammation research · 2026Review
- Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case report.Intestinal research · 2026Article
- Commensal Bacteria Drive B-cell Lymphomagenesis in the Setting of Innate Immunodeficiency.Blood cancer discovery · 2025Article
- Reduction of TRAF3 by heterozygosity or aging impacts B cell function.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Synergy and antagonism in the integration of BCR and CD40 signals that control B-cell population expansion.Molecular systems biology · 2025Article
- Multiomics integration prioritizes potential drug targets for multiple sclerosis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Genetics in a Danish Common Variable Immunodeficiency Cohort.Journal of clinical immunology · 2025Article
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
- Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.The Journal of allergy and clinical immunology · 2025Article
- TRAF3 is critical for initial T follicular helper cell specification via coordination of the IL-6R/IL-2R-BCL6 signaling nexus.Science immunology · 2025Article
- TRAF3 regulation of proximal TLR signaling in B cells.Journal of leukocyte biology · 2024Article
- Downregulation of miR-1388 Regulates the Expression of Antiviral Genes via Tumor Necrosis Factor Receptor (Biomolecules · 2024Article
- Pan-cancer analysis of the TRAF family genes and their correlation with prognosis, TME, immune and drug sensitivity.European journal of medical research · 2024Article
- TRAF3 loss-of-function reveals the noncanonical NF-κB pathway as a therapeutic target in diffuse large B cell lymphoma.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- TRAF2/3 deficient B cells resist DNA damage-induced apoptosis via NF-κB2/XIAP/cIAP2 axis and IAP antagonist sensitizes mutant lymphomas to chemotherapeutic drugs.Cell death & disease · 2023Article
Corrections and comments
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Authors and funding
37 authors at 15 institutions in 6 countries.
William RaeCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.ORCID 0000-0003-0095-2514
John M SowerbyCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.ORCID 0000-0001-6119-6965
Dorit VerhoevenEmma Children's Hospital, Amsterdam University Medical Center (AUMC), University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Amsterdam, Netherlands.
Mariam YoussefDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0002-9616-2172
Prasanti KotagiriCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.
Natalia SavinykhNIHR Cambridge BRC Cell Phenotyping Hub, Department of Medicine, University of Cambridge, Cambridge, UK.ORCID 0000-0003-3929-2760
Eve L CoomberWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID 0000-0002-7093-2263
Alexis BoneparthDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Angela ChanDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Chun GongWellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.
Machiel H JansenEmma Children's Hospital, Amsterdam University Medical Center (AUMC), University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Amsterdam, Netherlands.
Romy du LongAmsterdam University Center (AUMC), University of Amsterdam, Department of Pathology, Amsterdam, Netherlands.ORCID 0000-0001-9679-1182
Giorgia SantilliUCL Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0003-1776-1984
Ilenia SimeoniDepartment of Hematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.ORCID 0000-0001-5039-2194
Jonathan StephensDepartment of Hematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.ORCID 0000-0003-2020-9330
Kejia WuDepartment of Medical and Molecular Genetics, King's College London, London, UK.ORCID 0000-0002-7700-2907
Marta ZinicolaUCL Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0002-3546-3297
Hana Lango AllenNIHR Bioresource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK.ORCID 0000-0002-7803-8688
Helen BaxendaleCambridge Centre for Lung Infection, Royal Papworth Hospital, Cambridge, UK.ORCID 0000-0003-3838-3900
Dinakantha KumararatneDepartment of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK.ORCID 0000-0001-8438-4686
Effrossyni Gkrania-KlotsasMRC Epidemiology Unit, University of Cambridge, Cambridge, UK.ORCID 0000-0002-0930-8330
Selma C Scheffler MendozaClinical Immunology Service, National Institute of Pediatrics, Secretariat of Health, Mexico City, Mexico.ORCID 0000-0001-6548-5721
Marco Antonio Yamazaki-NakashimadaClinical Immunology Service, National Institute of Pediatrics, Secretariat of Health, Mexico City, Mexico.ORCID 0000-0002-7609-3923
Laura Berrón RuizImmune Deficiencies Laboratory, National Institute of Pediatrics, Secretariat of Health, Mexico City, Mexico.ORCID 0000-0002-3290-8705
Cesar Mauricio Rojas-MaruriPathology Department, National Institute of Pediatrics, Secretariat of Health, Mexico City, Mexico.
Saul O Lugo ReyesImmune Deficiencies Laboratory, National Institute of Pediatrics, Secretariat of Health, Mexico City, Mexico.ORCID 0000-0002-3730-4150
Paul A LyonsCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.ORCID 0000-0001-7035-8997
Anthony P WilliamsWessex Investigational Sciences Hub, Faculty of Medicine, University of Southampton, Southampton, UK.
Daniel J HodsonWellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK.ORCID 0000-0001-6225-2033
Gail A BishopDepartment of Microbiology and Immunology, University of Iowa, Iowa City, IA, USA.ORCID 0000-0002-1291-5078
Adrian J ThrasherUCL Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0002-6097-6115
David C ThomasDepartment of Immunology and Inflammation, Center for Inflammatory Diseases, Imperial College London, London, UK.ORCID 0000-0002-9738-2329
Michael P MurphyDepartment of Medicine, University of Cambridge School of Clinical Medicine, University of Cambridge, Cambridge, UK.ORCID 0000-0003-1115-9618
Timothy J VyseDepartment of Medical and Molecular Genetics, King's College London, London, UK.
Joshua D MilnerDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Taco W KuijpersEmma Children's Hospital, Amsterdam University Medical Center (AUMC), University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Amsterdam, Netherlands.ORCID 0000-0002-7421-3370
Kenneth G C SmithCambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.ORCID 0000-0003-3829-4326
University of Cambridge · GBColumbia University Irving Medical Center · USVietnam National Children's Hospital · VNAmsterdam University Medical Centers · NLGreat Ormond Street Hospital · GBKing's College London · GBWellcome/MRC Cambridge Stem Cell Institute · GBAddenbrooke's Hospital · GBAmsterdam University College · NLCentre for Inflammation Research · GBSecretaria de Salud · MXUniversity of Iowa · USUniversity of Southampton · GBUniversity of Ulster · GBWellcome Sanger Institute · GB
Funding
Loss of TRAF3 in aging B lymphocytesR21AG065532 · NIA · UNIVERSITY OF IOWA · PI BISHOP, GAIL A. · 2020 to 2021
$425kCancer Research UK 14136Cancer Research UK RCCFEL/100072Department of Health 2104-10074Department of Health RG65966Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MC-PC_13048Medical Research Council MC_PC_17228Medical Research Council MC_PC_17230Medical Research Council MC_QA137853Medical Research Council MC_U105663142Medical Research Council MC_UU_00006/2Medical Research Council MC-UU_12015/1Medical Research Council MC_UU_12015/1Medical Research Council MR/L019027Medical Research Council MR/L019027/1Medical Research Council MR/N003284/1Medical Research Council MR_U105663142Medical Research Council MR/W018861/1NIA NIH HHS R21 AG065532Wellcome Trust 110158/Z/15/ZWellcome Trust 110159/A15/ZWellcome Trust 200871/Z/16/ZWellcome Trust 203151/Z/16/ZWellcome Trust 216382/Z/19/ZWellcome Trust 217112/Z/19/ZWellcome Trust 219506/Z/19/Z
Abstract
Tumor necrosis factor receptor-associated factor 3 (TRAF3) is a central regulator of immunity. TRAF3 is often somatically mutated in B cell malignancies, but its role in human immunity is not defined. Here, in five unrelated families, we describe an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia. Affected individuals each had monoallelic mutations in
Indexed as
NeoplasmsTNF Receptor-Associated Factor 3AutoimmunityB-LymphocytesHumansMutationTNF Receptor-Associated Factor 3TRAF3 protein, human
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.