Endocrine Abstracts

Autoimmune pollyendocine type 1 (APS1) is a rare inherited autosomal recessive disorder. Typical symptom appears in within the first decade of life and followed by adrenocortical insufficiency, mucocutaneous candidiasis, Addison’s disease, and hypoparathyroidism. The clinical phenotype of APECEP is depends on mutations in autoimmune regulator gene (AIRE) which mapped to chromosome 21q22.3. We analyzed AIRE gene in subject to identify AIRE gene variants a...