Contributor: Gordon K. Klintworth
APECED type I (APECED syndrome, Autoimmune polyendocrinopathy type I, Autoimmune PolyEndocrinopathy-Candidiasis-Ectodermal Dystrophy) is an autosomal recessive syndrome characterized by autoimmune phenomena [autoimmune disease] directed against the endocrine system resulting in failure of multiple endocrine organs including the parathyroid glands. The disease appears in childhood, but additional findings may continue to appear throughout life. The condition is characterized by the triad of autoimmune hypoparathyroidism, autoimmune Addison disease and chronic mucocutaneous candidiasis. Autoimmune manifestions involve the endocrine glands and skin and the following may develop: hypoparathyroidism, adrenal gland failure and other autoimmune endocrine disorders (diabetes mellitus type I, hypothyroidism). Other manifestations includea keratopathy, alopecia, vitiligo, a pitted nail dystrophy, oral carcinoma [carcinoma - mouth], dental enamel hypoplasia [hypoplasia - nails], intestinal malabsorption, hepatitis, gallstones, autoimmune failure of gonads, pernicious anemia, and atrophy of the spleen. The disease is rare in most populations, but affects 1 in 9,000 Iranian Jews and 1 in 25,000 people in Finland. The condition is due to mutations in the AIRE1 gene.