ea0099p22 | Adrenal and Cardiovascular Endocrinology | ECE2024
Kucuka Isil
, Iraji Dorsa
, Breivik Lars
, Husebye Eystein Sverre
, Wolff Anette Boe
, Oftedal Bergithe
Autoimmune Polyendocrine Syndrome type-1 (APS-1) is a rare monogenic disease (1:100 000 frequency), caused by mutations in the autoimmune regulator (AIRE) gene, which plays a crucial role in the thymus for negative selection of self-reacting T cells. With tissue damage caused by self-reactive immune cells from early stages of life and gradually presenting with symptoms in following years, APS-1 is clinically diagnosed by presence of minimum two components of the classical tria...