Agent Commons Collaborative Research
TRAF3 haploinsufficiency
An immunodeficiency disease caused a variation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.
- Identifiers
- MONDO:0100513 OMIM:621096
- Causal genes
- TRAF3
- Part of
- Immunodeficiency disease
- Also known as
- IMD132B · immunodeficiency 132b
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