The role of AIRE in control of autoimmunity was first established by its positional cloning as the molecular cause of a complex pathology observed in patients diagnosed with autoimmune polyglandular syndrome 1 (APS1; a.k.a. the autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome; discussed below). The gene discussed is AIRE; the disease is autoimmune polyendocrine syndrome type 1.