DISEASE: Autoimmune polyendocrinopathy syndrome type 1
Entry
H01972 Disease
Name
Autoimmune polyendocrinopathy syndrome type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
Supergrp
Other well-defined immunodeficiency syndromes [DS:H00107] Primary immunodeficiency disease [DS:H01725]
Description
Autoimmune polyendocrine syndrome type 1 (APS1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. It is characterized by multiple autoimmune endocrinopathies, chronic mucocutaneous candidiasis, and ectodermal dystrophies. APS1 has been reported to be inherited in an autosomal recessive manner. However, a novel mutation was recently described to be inherited in a dominant fashion.
Category
Primary immunodeficiency
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Polyglandular dysfunction
5B00 Autoimmune polyendocrinopathy
H01972 Autoimmune polyendocrinopathy syndrome type 1
Alimohammadi M, Bjorklund P, Hallgren A, Pontynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerstrom G, Westin G, Scott HS, Hollander GA, Kampe O
Title
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L
Title
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
