AIRE and autoimmune polyendocrine syndrome type 1: Over 50 recessive mutations have been identified in the coding region of AIRE. In homozygotes or compound heterozygotes, they cause autoimmune polyendocrinopathy syndrome type 1 (APS1; OMIM 240300), also known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy [2–4,6–8].