AIRE and autoimmune polyendocrine syndrome type 1: Biallelic loss-of-expression or loss-of-function (LOF) variants in the autoimmune regulator (AIRE) gene form the genetic basis of autosomal recessive (AR) autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED), also known as autoimmune polyendocrine syndrome type 1 (1, 2, 3).