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01-11-2008 | Original Paper

Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers

Authors: Filippo De Luca, Mariella Valenzise, Rita Alaggio, Teresa Arrigo, Giuseppe Crisafulli, Giuseppina Salzano, Sara Cervato, Barbara Mariniello, Francesca Lazzarotto, Corrado Betterle

Published in: European Journal of Pediatrics | Issue 11/2008

Abstract

Introduction

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.

Conclusion

(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.

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Title: Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers
Authors: Filippo De Luca
Mariella Valenzise
Rita Alaggio
Teresa Arrigo
Giuseppe Crisafulli
Giuseppina Salzano
Sara Cervato
Barbara Mariniello
Francesca Lazzarotto
Corrado Betterle
Publication date: 01-11-2008
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 11/2008
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0668-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers

Abstract

Introduction

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Conclusion

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