Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

[MIM*240300] autoimmune and thymic disorder of childhood and young adulthood associated with many endocrinopathies such as hypoparathyroidism, hypothyroidism, Addison disease, Type 1 diabetes, and premature ovarian failure, as well as other autoimmune conditions such as vitiligo, alopecia, pernicious anemia, and noninfectious chronic active hepatitis. Disease frequently associated with chronic mucocutaneous candidiasis and ectodermal dysplasia affecting teeth and nails. It is an autosomal recessive disorder, not strongly linked to the HLA system. The defective gene has been called AIRE (autoimmune regulator gene); it codes for a nuclear protein with DNA-binding activity expressed in the thymus. SYN: autoimmune polyendocrine syndrome, type I, autoimmune polyendocrinopathy syndrome, type I, autosomal dominant, included, autoimmune polyendocrinopathy syndrome, type I, autoimmune polyglandular syndrome, type I, hypoadrenocorticism with hypoparathyroidism and superficial moniliasis, polyglandular autoimmune syndrome, type I, polyglandular deficiency syndrome, Persian-Jewish type, included.