Endocrine Abstracts

Summary: The autoimmune polyglandular syndromes (APS) comprise a wide spectrum of autoimmune disorders and are divided into a very rare juvenile (APS 1) and a relatively common adult type with (APS 2) or without adrenal failure (APS 3). APS 1 is caused by mutations in the autoimmune regulatory (AIRE) gene on chromosome 21 and is inherited in an autosomal recessive manner. Mutations of the AIRE gene result in defective proteins which cause autoimmune destruction of target organ...