AIRE and Autoimmune polyendocrinopathy type 1: Since AIRE was first described as the APS-1 gene in 1997, more than a hundred different mutations of the AIRE gene have been identified in APS-1 patients, including two major mutations (p.R257X and p.L323SfsX51) which are responsible for 95% of the mutant alleles in APS-1 patients [15]–[17].