| H01971 | |
| H number | H01971 |
| Name | IPEX syndrome; Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome |
| Description | IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance. This disease is caused by mutations in FOXP3, a critical regulator of T-cell homeostasis. Clinically, IPEX manifests most commonly with diarrhea, insulin-dependent diabetes mellitus, thyroid disorders, and eczema. |
| Category | Primary immunodeficiency |
| Network | - |
| Gene | FOXP3 [HSA:50943] [KO:K10163] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A01.21 ICD-10: E31.0 MeSH: C580192 OMIM: 304790 |
| Reference | PMID:12819471 AUTHORS Gambineri E, Torgerson TR, Ochs HD TITLE Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. JOURNAL Curr Opin Rheumatol 15:430-5 (2003) DOI:10.1097/00002281-200307000-00010 PMID:11137993 AUTHORS Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD TITLE The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. JOURNAL Nat Genet 27:20-1 (2001) DOI:10.1038/83713 |