AIRE Gene Mutation in Chinese APS-1 Patients

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).