1. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.
- Author
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Valenzise M, Fierabracci A, Cappa M, Porcelli P, Barcellona R, De Luca F, Barollo S, Garelli S, and Betterle C
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Male, Polyendocrinopathies, Autoimmune epidemiology, Sicily epidemiology, AIRE Protein, Genotype, Polyendocrinopathies, Autoimmune genetics, Polyendocrinopathies, Autoimmune pathology, Transcription Factors genetics
- Abstract
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive inherited disease caused by the mutation of the AIRE gene on chromosome 21. To date, 8 Sicilian patients have been described and the R203X AIRE mutation was found to be the most common in this region., Aims: (1) To describe 7 additional Sicilian APECED patients and to review all 15 Sicilian APECED patients who have been investigated by our group in the last years, and (2) to report a novel AIRE gene mutation., Results: Among the 3 cardinal features of APECED, hypoparathyroidism has been already detected in all 15 patients, whereas Addison's disease and chronic mucocutaneous candidiasis have so far been found in 10/15 and 12/15 cases, respectively. In 2 consanguineous cases, AIRE gene analysis revealed a novel mutation, named IVS13+2T, in homozygosis. R203X was the most common mutation in this region (30% of alleles and 46.6% of patients), followed by R257X (20% of alleles and 40% of patients)., Conclusions: Sicilian APECED patients are confirmed to have some peculiar characteristics from a clinical and genetic point of view. No correlations between genotype and phenotype were identified., (© 2014 S. Karger AG, Basel.)
- Published
- 2014
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