Article
Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.
Journal of endocrinological investigation - 1 Feb 2012
Capalbo D, Mazza C, Giordano R, Improda N, Arvat E, Cervato S, Morlin L, Pignata C, Betterle C, Salerno M
Abstract excerpt
BACKGROUND: Autoimmune-polyendocrinopathy-candidiasis- ectodermal-distrophy (APECED) is a recessive disease, caused by mutations in the AutoImmune REgulator (AIRE) gene. Different mutations are peculiar of particular populations. In Italy, 3 hot spots areas where APECED shows an increased prevalence, have been identified in Sardinia, Apulia, and in the Venetian region. AIM: In this study, we analyzed AIRE...
Topics
- Adult
- Child
- Child, Preschool
- DNA Mutational Analysis
- Family
- Female
- Gene Frequency
- Genetic Association Studies
- Genotype
- Heterozygote
- Humans