title: APS-I/APECED: the clinical disease and therapy.
abstract: The clinical picture and course of APS-I or APD-I/APECED is widely variable: the list of possible disease components includes some 30 disorders. The initial manifestation may not include any of the known characteristic components, namely, mucocutaneous candidiasis, hypoparathyroidism, or adrenocortical insufficiency. Although mutation detection is available, it does not help to exclude this disease. Diagnostic strategy needs to be based on knowledge of the clinical picture, including the features of ectodermal dystrophy.
authors.affiliation: Hospital for Children and Adolescents, University of Helsinki, PO Box 281, Fin-00029 HYKS, Helsinki, Finland. jaakko.perheentupa@saunalahti.fi
authors.forename: Jaakko
authors.initials: J
authors.lastname: Perheentupa
mesh_terms: D000293:Adolescent; D000328:Adult; D002178:Candidiasis, Chronic Mucocutaneous / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002648:Child; D002891:Chromosomes, Human, Pair 21; D005260:Female; D005387:Finland; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009059:Mouth Diseases / Q000382:microbiology; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D011379:Prognosis
chemical_list: D007166:Immunosuppressive Agents