title: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.
abstract: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. This review focuses on the clinical and immunological features of APECED, summarizes the current knowledge on the function of AIRE and discusses the importance of autoantibodies in disease diagnosis and prognosis. Additionally, we review the outcome of recent immunomodulatory treatments in APECED patients.
authors.affiliation: Institute of Biomedicine and Translational Medicine, University of Tartu, 19 Ravila Str., Tartu, EE50411, Estonia, kai.kisand@ut.ee.
authors.forename: Kai
authors.initials: K
authors.lastname: Kisand
authors.forename: Pärt
authors.initials: P
authors.lastname: Peterson
mesh_terms: D000818:Animals; D001323:Autoantibodies / Q000378:metabolism; D006801:Humans; D007167:Immunotherapy; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics* / Q000276:immunology; D000096927:AIRE Protein
chemical_list: D001323:Autoantibodies; D014157:Transcription Factors; D000096927:AIRE Protein