TY - JOUR
T1 - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
T2 - Report of seven additional sicilian patients and overview of the overall series from sicily
AU - Valenzise, Mariella
AU - Fierabracci, Alessandra
AU - Cappa, Marco
AU - Porcelli, Paolo
AU - Barcellona, Roberto
AU - De Luca, Filippo
AU - Barollo, Susi
AU - Garelli, Silvia
AU - Betterle, Corrado
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - AIRE gene
KW - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
KW - Endocrine autoimmunity
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U2 - 10.1159/000363537
DO - 10.1159/000363537
M3 - Article
C2 - 25059117
AN - SCOPUS:84904530008
VL - 82
SP - 127
EP - 132
JO - Hormone Research in Paediatrics
JF - Hormone Research in Paediatrics
SN - 1663-2818
IS - 2
ER -