Autoimmune Regulator (AIRE) Gene

Mutations in the autoimmune regulator (AIRE) gene were identified as responsible for autosomal recessive Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome (Nature Genetics 17:399-403, 1997), also called Autoimmune Polyglandular syndrome type 1 (APS-1), and the human Autoimmune Regulator (AIRE) gene was mapped and cloned (Nagamine et al., Nature Genetics 17:393-398, 1997).