The first condition is the APECED (Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy)/APS1 (autoimmune polyglandular type 1) syndrome, which is most frequently owing to loss of function mutations in both alleles of the AutoImmune REgulator (AIRE) gene (5). The gene discussed is AIRE; the disease is autoimmune polyendocrinopathy.