title: Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns.
abstract: Autoimmune polyendocrinopathy-candidiasis-ectodermal- dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1), is a very rare disease. Diagnosis requires the presence of at least two of three major clinical features: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease.
  
  
  METHODS
  In this study, we analyzed Autoimmune Regulator (AIRE) gene mutations and genotype-phenotype correlation in APECED patients originating from Calabria, a region in the south of Italy.
  
  
  METHODS
  Four patients and their first-degree relatives were evaluated for clinical manifestations, autoantibody presence and AIRE gene mutations.
  
  
  RESULTS
  Three patients carried a homozygous W78R mutation on exon 2, typical of patients with APECED from Apulia; the fourth patient had a homozygous R203X mutation on exon 5, typical of APECED patients from Sicily. Clinical disease expression showed wide variability. Analysis of relatives allowed the identification of 6 heterozygotes, none of whom showed major findings of APECED.
  
  
  CONCLUSIONS
  No AIRE gene mutations specific to Calabria were found in patients with APS-1, but mutations similar to those in patients from Apulia and Sicily. Heterozygosity for AIRE gene mutation is not associated with major findings of APECED.
authors: Endocrine Unit, Department of Medicine, University of Padova, Padova, Italy. corrado.betterle@unipd.it
authors: C
authors: C
authors: Betterle
authors: L
authors: L
authors: Ghizzoni
authors: A
authors: A
authors: Cassio
authors: F
authors: F
authors: Baronio
authors: S
authors: S
authors: Cervato
authors: S
authors: S
authors: Garelli
authors: E
authors: E
authors: Barbi
authors: G
authors: G
authors: Tonini
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood* / Q000276:immunology; D002648:Child; D005260:Female; D056726:Genetic Association Studies; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D009154:Mutation / Q000235:genetics*; D016884:Polyendocrinopathies, Autoimmune / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology*; D011379:Prognosis; D012802:Sicily; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult; D000096927:AIRE Protein
chemical_list: D001323:Autoantibodies; D014157:Transcription Factors; D000096927:AIRE Protein