Abstract

Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is due to mutations in the autoimmune regulator gene (AIRE). The highest number of patients was reported in Finland and among other ethnic groups such as Iranian Jews. Hot spots of incidence are also in Italian regions including Sardinia, Apulia, and the Venetian region, where peculiar AIRE genotypes were identified.
Methods: We conducted screenings of all the 14 exons of the AIRE gene in 5 APECED patients from 3 different Italian regions.
Results: We confirmed the peculiar Sardinian R139X genotype in 2 Sardinians and unusually in one patient from the Venetian region. As expected, exon 1 mutation was detected in one patient from Campania, while the other with the novel c.1314-1326del13/insGT mutation in exon 11 and already described, presented candidiasis and autoimmune hepatitis as first symptoms. No genotype/phenotype correlation was observed in the remaining patients.
Conclusions: Testing AIRE genotypes is useful to confirm an APECED diagnosis but also in investigating the pathogenesis and epidemiology of the disease in different regions.

DOI: 10.7754/Clin.Lab.2012.120803