Abstract
Autoimmune polyglandular syndrome type 1 (APS"1) gained a unique position among all autoimmune diseases due to its monogene inheritance. APS"1 is caused by a mutation in the AIRE (Aut oimmune Regulator) gene.
APS"1 is clinically characterized by functional disorders of both several endocrine glands and non"endocrine organs. Its diagnosis is based on the presence of at least two out of the three symptoms: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and autoimmune adre nal insufficiency.
The AIRE gene was disclosed in 1997. The gene encodes for AIRE protein, whic h probably acts as a transcription factor and co"regulates the equilibrium of Th1 and Th2 cells.
T he discovery of the AIRE gene not only enabled an exact diagnosis of APS"1 but also opened new perspectives in the research of the function of AIRE protein in the pathogenesis of other autoimmune diseases with a more complex etiology.