MeSH Browser

MeSH Supplementary: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
Unique ID: C580192
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C580192
Entry Term(s): Autoimmunity-Immunodeficiency Syndrome, X-Linked; Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea; Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked; Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy; IDDM-Secretory Diarrhea Syndrome; Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked; Ipex Syndrome; Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked; X-Linked Autoimmunity-Allergic Dysregulation Syndrome
Heading Mapped to: Diabetes Mellitus, Type 1 / congenital; *Diarrhea; Immune System Diseases / congenital; *Genetic Diseases, X-Linked
Frequency: 97
Note: 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 of Entry: 2013/10/24
Revision Date: 2016/07/07

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome MeSH Supplementary Concept Data 2024