title: Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED)--a diagnostic and therapeutic challenge.
abstract: Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy (APECED), also known as autoimmune polyendocrine/polyglandular syndrome type 1 (APS1), is a rare disease caused by mutations in the autoimmune regulator (AIRE) gene pair resulting in absence of active AIRE protein, which is essential for both central and peripheral self-tolerance. The phenotype is widely variable. Apart from the classical triad of mucocutaneous candidosis, hypoparathyroidism and adrenal failure, several other components, some of which are potentially life-threatening, may develop. Due to the unpredictable clinical course, the patients need regular follow-up by a clinician familiar with the disease. Diagnosis is often possible by clinical diagnostic criteria, but in many cases the early clinical picture does not bring it to mind. A novel tool, search for autoantibodies against interferon-omega, enables proof or exclusion of APECED with more certainty than gene analysis. It is highly specific and sensitive for APECED if thymoma and myasthenia gravis are excluded.
authors.affiliation: Department of Pediatrics, Kuopio University and University Hospital, Kuopio, Finland. jarmo.jaaskelainen@kuh.fi
authors.forename: J
authors.initials: J
authors.lastname: Jääskeläinen
authors.forename: J
authors.initials: J
authors.lastname: Perheentupa
mesh_terms: D000309:Adrenal Insufficiency / Q000188:drug therapy* / Q000209:etiology; D000328:Adult; D001323:Autoantibodies / Q000032:analysis; D015415:Biomarkers / Q000097:blood; D002178:Candidiasis, Chronic Mucocutaneous / Q000188:drug therapy* / Q000209:etiology / Q000517:prevention & control; D002648:Child; D006801:Humans; D007011:Hypoparathyroidism / Q000188:drug therapy* / Q000209:etiology; D007370:Interferon Type I / Q000037:antagonists & inhibitors; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000503:physiopathology*; D011379:Prognosis; D012720:Severity of Illness Index; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D000096927:AIRE Protein
chemical_list: D001323:Autoantibodies; D015415:Biomarkers; D007370:Interferon Type I; D014157:Transcription Factors; D000096927:AIRE Protein; C063743:interferon omega 1