title: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl.
abstract: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) or autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disease caused by mutations of the AutoImmune REgulator (AIRE) gene, an important mediator of tolerance to self-antigens. It is characterized by two out of three major components: chronic mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. We present an 11-year-old girl suffering from recurrent episodes of mucocutaneous candidiasis and onychomycosis from 1 to 6 years of age, and transient alopecia at the age of 4 years. Hypoparathyroidism and dental enamel hypoplasia were diagnosed at 8 years. Autoantibodies to thyroid and adrenal glands were not detected and all other endocrine functions have remained normal. Genetic analysis revealed that the patient was homozygous for the mutation T16M in exon 1 of the AIRE gene (p.T16M, c.47C>T). This is the first APECED case reported for carrying this mutation in homozygous form. Parents were third cousins and heterozygous carriers of this mutation.
authors.affiliation: Third Department of Pediatrics, Aristotle University School of Medicine, Hippokration Hospital, Thessaloniki, Greece.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kollios
authors.forename: Anastasia
authors.initials: A
authors.lastname: Tsolaki
authors.forename: Charalampos
authors.initials: C
authors.lastname: Antachopoulos
authors.forename: I
authors.initials: I
authors.lastname: Moix
authors.forename: Michael A
authors.initials: MA
authors.lastname: Morris
authors.forename: Maria
authors.initials: M
authors.lastname: Papadopoulou
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roilides
mesh_terms: D019943:Amino Acid Substitution; D002648:Child; D003241:Consanguinity; D005260:Female; D006115:Greece; D006720:Homozygote; D006801:Humans; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics* / Q000503:physiopathology; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein