title: Polyglandular autoimmune syndrome type I - a novel AIRE mutation in a North American patient.
abstract: Autoimmune polyglandular syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare autoimmune disease that results from autosomal recessive mutations of the human autoimmune regulatory (AIRE) gene. We present the case of a 17-year-old North American girl of primarily Norwegian descent with a novel AIRE gene mutation causing APS-1. In addition to the classic triad of chronic candidiasis, hypoparathyoidism and autoimmune adrenocortical insufficiency, she also has vitiligo, intestinal malabsorption, autoimmune hepatitis, autoimmune hypothyroidism, myositis, myalgias, chronic fatigue, and failure to thrive. Genetic testing revealed heterozygosity for c.20_115de196 and c.967_979del13 mutations in the AIRE gene. The AIRE gene c.20_115de196 mutation has not been previously reported.
authors.forename: Kelly Egan
authors.initials: KE
authors.lastname: Huibregtse
authors.forename: Peter
authors.initials: P
authors.lastname: Wolfgram
authors.forename: Karen K
authors.initials: KK
authors.lastname: Winer
authors.forename: Ellen L
authors.initials: EL
authors.lastname: Connor
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein