AIRE and autoimmune disease: Several of the risk genes revealed were previously confirmed to confer risk for PAI, e.g., BACH2, PTPN22 and CTLA4. Other genes were newly identified, including LPP, BACH2, SH2B3, SIGLEC5, UBASH3A, and intriguingly two coding SNPs in AIRE. Hence AIRE is a risk gene both in a monogenic and polygenic setting for PAI and was also recently discovered as conferring risk towards two other organ specific autoimmune disorders, namely type 1 diabetes, and pernicious anemia (37, 38).