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.
| Original language | English |
|---|---|
| Pages (from-to) | 127-132 |
| Number of pages | 6 |
| Journal | Hormone Research in Paediatrics |
| Volume | 82 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2014 |
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Keywords
- AIRE gene
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
- Endocrine autoimmunity
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology
- Endocrinology, Diabetes and Metabolism
- Medicine(all)
Cite this
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy : Report of seven additional sicilian patients and overview of the overall series from sicily. / Valenzise, Mariella; Fierabracci, Alessandra; Cappa, Marco; Porcelli, Paolo; Barcellona, Roberto; De Luca, Filippo; Barollo, Susi; Garelli, Silvia; Betterle, Corrado.
In: Hormone Research in Paediatrics, Vol. 82, No. 2, 2014, p. 127-132.Research output: Contribution to journal › Article
}
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
UR - http://www.scopus.com/inward/record.url?scp=84904530008&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84904530008&partnerID=8YFLogxK
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 -