Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Seven Additional Sicilian Patients and Overview of the Overall Series from Sicily

作者：Valenzise Mariella^*; Fierabracci Alessandra; Cappa Marco; Porcelli Paolo; Barcellona Roberto; De Luca Filippo; Barollo Susi; Garelli Silvia; Betterle Corrado

来源：Hormone Research in Paediatrics, 2014, 82(2): 127-132.

DOI：10.1159/000363537

• Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• AIRE gene
• Endocrine autoimmunity

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%26apos;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.

• 出版日期2014