Endocrine Abstracts

The AIRE gene (autoimmune regulator) has been identified as an important mediator of central tolerance against ectopically expressed peripheral antigens. Mutatations of AIRE are responsible for autoimmune polyendocrinopathy syndrome type I (APSI) in human characterized by a multiorgan autoimmune disease. Autoimmune hepatitis (AIH) is part of the clinical spectrum in humans and mice. 19% of patients with AIRE mutations develop an autoimmune hepatitis which is characterized by a...