APECED

 

 

APECED is an autosomal recessive disorder of immune dysregulation caused by mutations in the AIRE gene. It is also known as Autoimmune Polyendocrine syndrome Type I (APS-I). Patients are characterized by chronic mucocutaneous candidiasis (CMC) and polyendocrinopathy (adrenal insufficiency and hypoparathyroidism). Patients do not appear to have increased susceptibility to other types of infections.

APECED