title: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.
abstract: BACKGROUND
  Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive inherited disease caused by the mutation of the AIRE gene on chromosome 21. To date, 8 Sicilian patients have been described and the R203X AIRE mutation was found to be the most common in this region.
  
  
  OBJECTIVE
  (1) To describe 7 additional Sicilian APECED patients and to review all 15 Sicilian APECED patients who have been investigated by our group in the last years, and (2) to report a novel AIRE gene mutation.
  
  
  RESULTS
  Among the 3 cardinal features of APECED, hypoparathyroidism has been already detected in all 15 patients, whereas Addison's disease and chronic mucocutaneous candidiasis have so far been found in 10/15 and 12/15 cases, respectively. In 2 consanguineous cases, AIRE gene analysis revealed a novel mutation, named IVS13+2T, in homozygosis. R203X was the most common mutation in this region (30% of alleles and 46.6% of patients), followed by R257X (20% of alleles and 40% of patients).
  
  
  CONCLUSIONS
  Sicilian APECED patients are confirmed to have some peculiar characteristics from a clinical and genetic point of view. No correlations between genotype and phenotype were identified.
authors: Unit of Pediatrics, Department of Pediatric Sciences, University of Messina, Messina, Italy.
authors: Mariella
authors: M
authors: Valenzise
authors: Alessandra
authors: A
authors: Fierabracci
authors: Marco
authors: M
authors: Cappa
authors: Paolo
authors: P
authors: Porcelli
authors: Roberto
authors: R
authors: Barcellona
authors: Filippo
authors: F
authors: De Luca
authors: Susi
authors: S
authors: Barollo
authors: Silvia
authors: S
authors: Garelli
authors: Corrado
authors: C
authors: Betterle
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D012802:Sicily / Q000453:epidemiology; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein