title: The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1.
abstract: Autoimmune polyglandular syndromes are rare autoimmune endocrinopathies that are associated with nonendocrine autoimmunopathies. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named autoimmune polyglandular syndrome type 1 (APS-1), is distinguished from autoimmune polyglandular syndrome 2 (APS-2). Major disease components of APECED are adrenal insufficiency, hypoparathyroidism, and candidiasis. The diagnosis is established by the presence of two out of the three components. Minor clinical features include autoimmune hepatitis, which occurs in up to 20% of APECED patients, and ranges from a mild to a fulminant course. The disease mostly affects juvenile patients from Sardegna, Italy, Finland, and Iran (Iranian Jews), but it also occurs in other ethnic groups. The AIRE gene responsible for APECED is expressed in cells involved in induction and maintenance of immune tolerance. Genetic alterations of the single gene are associated with APECED. Because a specific therapy is not currently available, treatment consists of hormone replacement and caring for clinical symptoms.
authors.affiliation: Department of Gastroenterology, Hepatology, and Endocrinology, Hannover Medical School, 30625 Hannover, Germany.
authors.forename: Tim O
authors.initials: TO
authors.lastname: Lankisch
authors.forename: Elmar
authors.initials: E
authors.lastname: Jaeckel
authors.forename: Christian P
authors.initials: CP
authors.lastname: Strassburg
mesh_terms: D000309:Adrenal Insufficiency / Q000175:diagnosis; D000935:Antifungal Agents / Q000627:therapeutic use; D002177:Candidiasis / Q000175:diagnosis; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D019693:Hepatitis, Autoimmune / Q000175:diagnosis; D020249:Hormone Replacement Therapy; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D017114:Liver Failure, Acute / Q000209:etiology; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics / Q000276:immunology / Q000628:therapy; D011237:Predictive Value of Tests; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics; D016896:Treatment Outcome; D000096927:AIRE Protein
chemical_list: D000935:Antifungal Agents; D007166:Immunosuppressive Agents; D014157:Transcription Factors; D000096927:AIRE Protein