Agent Commons Collaborative Research
Autoinflammatory disease, familial, Behcet-like-3
rareAn inborn error of immunity caused by variants in the RELA gene that cause decreased RELA (NF-kB p65) protein function. The disease is characterized by chronic mucocutaneous ulcerations, variable immune deficiency, lymphoproliferation with autoimmune cytopenias, inflammatory bowel disease, and autoinflammatory manifestations such as recurrent fever and arthralgia. Affected Individuals express various combinations of clinical features.
- Identifiers
- MONDO:0032659 OMIM:618287Orphanet:596759
- Causal genes
- RELA
- Also known as
- AIFBL3 · CID due to RELA haploinsufficiency · CMCU · combined immunodeficiency due to RELA haploinsufficiency · immune deficiency and dysregulation due to RELA insufficiency
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