Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome [Supplementary Concept]
An X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and DERMATITIS. Other features may include HYPOTHYROIDISM; AUTOIMMUNE HEMOLYTIC ANEMIA; THROMBOCYTOPENIA; LYMPHADENOPATHY; HEPATITIS, and NEPHRITIS. The disorder may be fatal before age 2 years if not aggressively treated. Mutations in the FOXP3 gene have been identified. OMIM: 304790
Date introduced: October 24, 2013
MeSH Unique ID: C580192
Heading Mapped to:
Entry Terms:
- Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked
- X-Linked Autoimmunity-Allergic Dysregulation Syndrome
- Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked
- Ipex Syndrome
- IDDM-Secretory Diarrhea Syndrome
- Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea
- Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked
- Autoimmunity-Immunodeficiency Syndrome, X-Linked
- Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy