title: Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.
abstract: OBJECTIVE
  To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I).
  
  
  METHODS
  Forty patients with clinical manifestations resembling APS I and with autoantibodies typical of this condition were screened for Norwegian autoimmune regulator (AIRE) gene mutations.
  
  
  RESULTS
  A 30-year old man who had developed Addison' s disease at the age of 12, but had no other components of APS I, was homozygous for the 1094-1106 deletion mutation in exon 8 of the AIRE gene, the most common mutation found in Norway.
  
  
  CONCLUSIONS
  APS I patients with milder and atypical phenotypes are difficult to diagnose on clinical grounds. Autoantibody analysis and mutational analysis of AIRE may therefore be helpful modalities for identifying these individuals.
authors.affiliation: Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, N-5021 Bergen, Norway. Anette.Boe@med.uib.no
authors.forename: Anette S
authors.initials: AS
authors.lastname: Bøe
authors.forename: Per M
authors.initials: PM
authors.lastname: Knappskog
authors.forename: Anne Grethe
authors.initials: AG
authors.lastname: Myhre
authors.forename: Jan I
authors.initials: JI
authors.lastname: Sørheim
authors.forename: Eystein S
authors.initials: ES
authors.lastname: Husebye
mesh_terms: D000224:Addison Disease / Q000235:genetics*; D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein