{"title":"中国APS-1患者AIRE基因突变","authors":"Wufei Zhu, Zhen Hu, Xiangyu Liao, Xing Chen, Zhaoyang Zeng","doi":"10.4172/2379-1764.1000235","DOIUrl":null,"url":null,"abstract":"Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE) gene. The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison’s disease) and hypoparathyroidism. To date, more than 100 different mutations of the AIRE gene have been identified in APS-1 patients. These different mutations affect the structure and function of the AIRE protein in different ways, which eventually leads to the development of APS-1. So far, only five cases of APS-1 have been reported in the Chinese, and the main mutation sites are c. 769C>T (p.R257*), c.55G>A (p.A19T), c.463G>A (p.G155fsX203), c.622G>T (p.G208W) and c.206A>C (p.Q69P).","PeriodicalId":7277,"journal":{"name":"Advanced techniques in biology & medicine","volume":"15 1","pages":"1-3"},"PeriodicalIF":0.0000,"publicationDate":"2017-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"AIRE Gene Mutation in Chinese APS-1 Patients\",\"authors\":\"Wufei Zhu, Zhen Hu, Xiangyu Liao, Xing Chen, Zhaoyang Zeng\",\"doi\":\"10.4172/2379-1764.1000235\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE) gene. The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison’s disease) and hypoparathyroidism. To date, more than 100 different mutations of the AIRE gene have been identified in APS-1 patients. These different mutations affect the structure and function of the AIRE protein in different ways, which eventually leads to the development of APS-1. So far, only five cases of APS-1 have been reported in the Chinese, and the main mutation sites are c. 769C>T (p.R257*), c.55G>A (p.A19T), c.463G>A (p.G155fsX203), c.622G>T (p.G208W) and c.206A>C (p.Q69P).\",\"PeriodicalId\":7277,\"journal\":{\"name\":\"Advanced techniques in biology & medicine\",\"volume\":\"15 1\",\"pages\":\"1-3\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-08-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Advanced techniques in biology & medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4172/2379-1764.1000235\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advanced techniques in biology & medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4172/2379-1764.1000235","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE) gene. The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison’s disease) and hypoparathyroidism. To date, more than 100 different mutations of the AIRE gene have been identified in APS-1 patients. These different mutations affect the structure and function of the AIRE protein in different ways, which eventually leads to the development of APS-1. So far, only five cases of APS-1 have been reported in the Chinese, and the main mutation sites are c. 769C>T (p.R257*), c.55G>A (p.A19T), c.463G>A (p.G155fsX203), c.622G>T (p.G208W) and c.206A>C (p.Q69P).
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