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Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.

Accepted version
Peer-reviewed

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Authors

Verhoeven, Dorit 
Kotagiri, Prasanti 

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 TRAF3 that reduced TRAF3 expression. Immunophenotyping showed that patients' B cells were dysregulated, exhibiting increased nuclear factor-κB 2 activation, elevated mitochondrial respiration, and heightened inflammatory responses. Patients had mild CD4+ T cell lymphopenia, with a reduced proportion of naïve T cells but increased regulatory T cells and circulating T follicular helper cells. Guided by this clinical phenotype, targeted analyses demonstrated that common genetic variants, which also reduce TRAF3 expression, are associated with an increased risk of B cell malignancies, systemic lupus erythematosus, higher immunoglobulin levels, and bacterial infections in the wider population. Reduced TRAF3 conveys disease risks by driving B cell hyperactivity via intrinsic activation of multiple intracellular proinflammatory pathways and increased mitochondrial respiration, with a likely contribution from dysregulated T cell help. Thus, we define monogenic TRAF3 haploinsufficiency syndrome and demonstrate how common TRAF3 variants affect a range of human diseases.

Description

Keywords

Autoimmunity, B-Lymphocytes, Humans, Mutation, Neoplasms, TNF Receptor-Associated Factor 3

Journal Title

Sci Immunol

Conference Name

Journal ISSN

2470-9468
2470-9468

Volume Title

7

Publisher

American Association for the Advancement of Science (AAAS)
Sponsorship
Medical Research Council (MC_UU_12015/1)
Medical Research Council (MR/L019027/1)
Medical Research Council (MR/N003284/1)
Wellcome Trust (203151/Z/16/Z)
Medical Research Council (MC_U105663142)
Wellcome Trust (110159/Z/15/Z)
Wellcome Trust (219506/Z/19/Z)
MRC (MC_UU_00006/2)
Medical Research Council (MC_PC_17230)
Wellcome Trust (200871/Z/16/Z)
Medical Research Council (MR/W018861/1)
Medical Research Council (G1000143)
Medical Research Council (G0401527)
Medical Research Council (G0401527/1)
Cancer Research Uk (None)
Cancer Research UK (RCCFEL\100072)
Medical Research Council (MC_PC_13048)