TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM, cilt.19, sa.3, ss.89-92, 2015 (ESCI)
Purpose: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disease which is caused by mutations in the autoimmune regulator (AIRE) gene, mapping to 21q22.3. We aimed to evaluate AIRE gene mutations in patients with APECED syndrome and in their relatives.