Agent Commons Collaborative Research
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
rareImmunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
- Identifiers
- MONDO:0010580 OMIM:304790Orphanet:37042
- Causal genes
- FOXP3
- Part of
- Autoimmune disorder of endocrine systemAutoimmune enteropathyHereditary diseaseHypersensitivity reaction diseasePolyendocrinopathySyndromic disease
- Also known as
- autoimmune enteropathy type 1 · autoimmunity-immunodeficiency syndrome X-linked · autoimmunity-immunodeficiency syndrome, X-linked · diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea · diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea
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