title: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.
abstract: OBJECTIVE
  To determine the Irish prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), the AIRE mutations involved and clinical features of this population.
  
  
  METHODS
  All patients were identified through paediatricians and endocrinologists in Ireland. Patients were invited to attend a multidisciplinary clinic.
  
  
  RESULTS
  Thirty-one patients (2-56 years), 18 female, were identified from 19 families giving an Irish prevalence of 1:130,000. Twenty-six patients had hypoparathyroidism, 21 had adrenal insufficiency (AI) and 10 of 16 had ovarian failure. Three affected patients have died. Many with hypoparathyroidism were resistant to 1-alpha-vitamin D. Two needed daily PTH injections. Mineralocorticoid deficiency as the first manifestation of AI was common. Chronic intra-oral candidiasis affected 25 patients and three had leukoplakia. Two had keratoconjuntivitis. Of 22 with AIRE gene analysis, three different mutations were identified, one of which is novel.
  
  
  CONCLUSIONS
  APECED is rare in Ireland. We saw a significant amount of non-endocrine disease but no ectodermal dystrophy. AIRE gene analysis reassured many siblings and identified individuals with APECED prior to any symptoms.
authors.affiliation: Department of Endocrinology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
authors.forename: Maria
authors.initials: M
authors.lastname: Dominguez
authors.forename: Ellen
authors.initials: E
authors.lastname: Crushell
authors.forename: Tanja
authors.initials: T
authors.lastname: Ilmarinen
authors.forename: Eleanor
authors.initials: E
authors.lastname: McGovern
authors.forename: Sinead
authors.initials: S
authors.lastname: Collins
authors.forename: Ben
authors.initials: B
authors.lastname: Chang
authors.forename: Padraig
authors.initials: P
authors.lastname: Fleming
authors.forename: Alan D
authors.initials: AD
authors.lastname: Irvine
authors.forename: Donal
authors.initials: D
authors.lastname: Brosnahan
authors.forename: Ismo
authors.initials: I
authors.lastname: Ulmanen
authors.forename: Nuala
authors.initials: N
authors.lastname: Murphy
authors.forename: Colm
authors.initials: C
authors.lastname: Costigan
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D015995:Prevalence; D014157:Transcription Factors / Q000235:genetics; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein