title: Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome.
abstract: Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p.R15H (c.44G>A) was found. In the clinical course of the patient, chronic liver disease due to autoimmune hepatitis has evolved resulting in hepatopulmonary syndrome (HPS) which has not been reported before in patients with APECED.
authors.forename: Fatih
authors.initials: F
authors.lastname: Celmeli
authors.forename: Abdullah
authors.initials: A
authors.lastname: Kocabas
authors.forename: Ishak A
authors.initials: IA
authors.lastname: Isik
authors.forename: Mesut
authors.initials: M
authors.lastname: Parlak
authors.forename: Kai
authors.initials: K
authors.lastname: Kisand
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.forename: Doga
authors.initials: D
authors.lastname: Turkkahraman
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000378:metabolism*; D003490:Cyanosis / Q000209:etiology* / Q000473:pathology; D005260:Female; D020065:Hepatopulmonary Syndrome / Q000150:complications* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016884:Polyendocrinopathies, Autoimmune / Q000503:physiopathology*; D011379:Prognosis; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D015415:Biomarkers; D014157:Transcription Factors; D000096927:AIRE Protein