Mutations in the autoimmune regulator (AIRE) gene cause a breakdown in immune tolerance to self antigens, which leads to severe multiorgan autoimmunity and increased levels of circulating ...

That means mutations are present in each allele—both copies—of a gene called AIRE. Each parent contributes one copy of all genes that make up the human genome. Yet in a study of 104 patients ...

APS 1 is caused by mutations of the autoimmune regulator (AIRE) gene, which encodes an activator of transcription, Aire, that induces the expression of autoantigens in thymic medullary epithelial ...