Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers.
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.
De Luca
Filippo
F
Department of Pediatrics, University of Messina, Via Consolare Valeria, Messina, Italy. filippo.deluca@unime.it
Valenzise
Mariella
M
Alaggio
Rita
R
Arrigo
Teresa
T
Crisafulli
Giuseppe
G
Salzano
Giuseppina
G
Cervato
Sara
S
Mariniello
Barbara
B
Lazzarotto
Francesca
F
Betterle
Corrado
C
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
D001323:Autoantibodies; D014157:Transcription Factors; D014365:Tryptophan Hydroxylase; D000096927:AIRE Protein