Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2012-04

AUTHORS

C. Giordano, R. Modica, M. L. Allotta, V. Guarnotta, S. Cervato, S. Masiero, R. Giordano, S. Garelli, C. Betterle

ABSTRACT

BACKGROUND: Autoimmune polyendocrinopathycandidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1) (OMIM 240300), is a very rare disease. Accepted criteria for diagnosis require the presence of at least 2 of 3 major clinical features: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), and Addison's disease (AD). AIM: We analyzed AIRE gene mutations and genotype-phenotype correlation in APECED patients originating from Sicily and in their relatives. SUBJECTS AND METHODS: In 4 patients, clinical evaluations, genetic analysis of AIRE, and APECED-related autoantibodies were performed. RESULTS: Two patients carried the mutation R203X in homozygosis on exon 5. One had the mutation R203X combined with R139X. The fourth had the R203X mutation in heterozygosis with R257X. Expression of the disease showed wide variability of clinical manifestations. Analysis of relatives allowed the identification of 10 heterozygotes for AIRE gene mutations. None of these subjects presented major findings of APECED. Three of the 4 patients were positive for autoantibodies to interferon-ω. CONCLUSIONS: In Sicily, R203X is confirmed to be the typical recessive and prevalent AIRE gene mutation on exon 5. Genotype-phenotype correlation failed to reveal a relationship between detected mutations and clinical expression. Mutations in heterozygosity in AIRE gene are not associated with major findings of APECED. More... »

PAGES

384-388

Identifiers

URI

http://scigraph.springernature.com/pub.10.3275/7965

DOI

http://dx.doi.org/10.3275/7965

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1078466827

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22024611


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