| H01972 | |
| H number | H01972 |
| Name | Autoimmune polyendocrinopathy syndrome type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) |
| Description | Autoimmune polyendocrine syndrome type 1 (APS1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. It is characterized by multiple autoimmune endocrinopathies, chronic mucocutaneous candidiasis, and ectodermal dystrophies. APS1 has been reported to be inherited in an autosomal recessive manner. However, a novel mutation was recently described to be inherited in a dominant fashion. |
| Category | Primary immunodeficiency |
| Network | - |
| Gene | AIRE [HSA:326] [KO:K10603] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5B00 ICD-10: E31.0 MeSH: C538275 OMIM: 240300 |
| Reference | PMID:18322283 AUTHORS Alimohammadi M, Bjorklund P, Hallgren A, Pontynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerstrom G, Westin G, Scott HS, Hollander GA, Kampe O TITLE Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. JOURNAL N Engl J Med 358:1018-28 (2008) DOI:10.1056/NEJMoa0706487 PMID:10677297 AUTHORS Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L TITLE Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. JOURNAL Am J Hum Genet 66:378-92 (2000) DOI:10.1086/302765 PMID:16114041 AUTHORS Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I TITLE Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. JOURNAL Hum Mutat 26:322-31 (2005) DOI:10.1002/humu.20224 |