| H01972 | |
| H番号 | H01972 |
| 名称 | 多腺性自己免疫症候群 1型; 自己免疫性多腺性内分泌不全症・カンジダ症・外胚葉ジストロフィー (APECED) |
| 概要 | 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. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | - |
| 病因遺伝子 | AIRE [HSA:326] [KO:K10603] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5B00 ICD-10: E31.0 MeSH: C538275 OMIM: 240300 |
| 文献 | PMID:18322283 著者 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 タイトル Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. 雑誌 N Engl J Med 358:1018-28 (2008) DOI:10.1056/NEJMoa0706487 PMID:10677297 著者 Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L タイトル Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. 雑誌 Am J Hum Genet 66:378-92 (2000) DOI:10.1086/302765 PMID:16114041 著者 Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, Kangas H, Ulmanen I タイトル Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. 雑誌 Hum Mutat 26:322-31 (2005) DOI:10.1002/humu.20224 |