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Start free with EleplanEarly-onset autoinflammatory syndrome due to A20 haploinsufficiency
ORPHA:674762Disease
Also called Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20 · Early-onset autoinflammatory syndrome associated with TNFAIP3 · HA20-related monogenic Behcet-like disease
What it is
A rare autoinflammatory syndrome characterized by mostly early-onset, recurrent, refractory fever attacks, painful and recurrent mucosal ulceration affecting predominantly gastrointestinal (that may lead to inflammatory bowel disease), oral and genital areas. Additional variable features may include skin rash, psoriasis, axillary dermal abscesses, musculoskeletal disorders, polyarthritis, arthralgia, and autoimmune thyroid disorder. Ocular manifestations (including uveitis, chorioretinal scarring and macular fibrosis secondary to retinal vasculitis) are infrequent.
Key facts
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Gene
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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