Mutations in AIRE lead to a rare monogenic disorder called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), and mono-allelic mutations in the PHD1 finger of AIRE have been found to associate with a broader range of autoimmune phenotypes [35–39]. The gene discussed is EGLN2; the disease is autoimmune polyendocrine syndrome type 1.