@article {1841, title = {Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns.}, journal = {J Endocrinol Invest}, volume = {35}, year = {2012}, month = {2012 Nov}, pages = {877-81}, abstract = {

UNLABELLED: 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, chronic hypoparathyroidism, and Addison{\textquoteright}s disease.

DESIGN: In this study, we analyzed Autoimmune Regulator (AIRE) gene mutations and genotype-phenotype 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-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.

}, keywords = {Adolescent, Adult, Autoantibodies, Child, Female, Genetic Association Studies, Heterozygote, Homozygote, Humans, Italy, Male, Mutation, Polyendocrinopathies, Autoimmune, Prognosis, Sicily, Transcription Factors, Young Adult}, issn = {1720-8386}, doi = {10.3275/8109}, author = {Betterle, C and Ghizzoni, L and Cassio, A and Baronio, F and Cervato, S and Garelli, S and Barbi, E and Tonini, G} }