Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal- Dystrophy (APECED) in Calabria: clinical, immunological and genetic patterns.

Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1), is a very rare disease. Diagnosis requires the presence of at least two of three major clinical features: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison’s disease (AD). Design: in this study we analyzed Autoimmune Regulator (AIRE) gene mutations and genotypephenotype correlation in APECED patients originating from Calabria, a region in the south of Italy. Patients and methods: four patients and their first-degree relatives were evaluated for clinical manifestations, autoantibody presence and AIRE gene mutations. Results: three patients carried a homozygous W78R mutation on exon 2, typical of patients with APECED from Apulia; the fourth patient had a homozygous R203X mutation on exon 5, typical of APECED patients from Sicily. Clinical disease expression showed wide variability. Analysis of relatives allowed the identification of 6 heterozygotes, none of whom showed major findings of APECED. Conclusions: no AIRE gene mutations specific to Calabria were found in patients with APS type 1, but mutations similar to those in patients from Apulia and Sicily. Heterozygosity for AIRE gene mutation is not associated with major findings of APECED.