title: Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers.
abstract: BACKGROUND
  We report the clinical and immunological features of the autoimmune regulator gene (AIRE) in two Sicilian brothers with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). They were compound heterozygotes with R203X/R257X. Both had oral candidiasis since the first year of life and later developed hypoparathyroidism and Addison disease. The elder brother had experienced recurrent lower respiratory infections since 5 years of age and over the years developed severe obstructive lung disease with bronchiectasis, which led to death at 18 years of age. Both brothers had circulating autoantibodies against tryptophan hydroxylase and serotonin-producing cells were absent in the duodenal mucosa. This was associated with intestinal dysfunction in only the elder brother.
  
  
  CONCLUSIONS
  (1) In the first Sicilian family with APECED reported up to now we found a heterozygous mutation that had been previously reported only once. (2) In the older brother of this family we observed a severe and lethal lung disease; this case adds to a growing literature describing this association between APECED and respiratory illnesses. (3) Tryptophan hydroxylase antibodies might be hypothesized to be the marker of an autoimmune gastrointestinal illness possibly associated with APECED.
authors.affiliation: Department of Pediatrics, University of Messina, Via Consolare Valeria, Messina, Italy. filippo.deluca@unime.it
authors.forename: Filippo
authors.initials: F
authors.lastname: De Luca
authors.forename: Mariella
authors.initials: M
authors.lastname: Valenzise
authors.forename: Rita
authors.initials: R
authors.lastname: Alaggio
authors.forename: Teresa
authors.initials: T
authors.lastname: Arrigo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Crisafulli
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Salzano
authors.forename: Sara
authors.initials: S
authors.lastname: Cervato
authors.forename: Barbara
authors.initials: B
authors.lastname: Mariniello
authors.forename: Francesca
authors.initials: F
authors.lastname: Lazzarotto
authors.forename: Corrado
authors.initials: C
authors.lastname: Betterle
mesh_terms: D000293:Adolescent; D001323:Autoantibodies / Q000276:immunology; D001706:Biopsy; D001987:Bronchiectasis / Q000150:complications; D002177:Candidiasis / Q000150:complications* / Q000235:genetics*; D004386:Duodenum / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications; D007413:Intestinal Mucosa / Q000378:metabolism / Q000473:pathology; D008173:Lung Diseases, Obstructive / Q000150:complications* / Q000235:genetics*; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications* / Q000235:genetics*; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000150:complications; D012802:Sicily; D014157:Transcription Factors / Q000235:genetics*; D014365:Tryptophan Hydroxylase / Q000276:immunology; D000096927:AIRE Protein
chemical_list: D001323:Autoantibodies; D014157:Transcription Factors; D014365:Tryptophan Hydroxylase; D000096927:AIRE Protein