ArticleJournal of endocrinological investigation2012
Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.
Article in Journal of endocrinological investigation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 22 citations in OpenAlex.
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- Genetic Polymorphisms in Exon 5 and Intron 5 and 7 ofBiology · 2024Article
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.Journal of endocrinological investigation · 2021Article
- Levothyroxine and insulin requirement in autoimmune polyglandular type 3 syndrome: a real-life study.Journal of endocrinological investigation · 2021Article
- A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Journal of endocrinological investigation · 2014Article
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective.Journal of endocrinological investigation · 2013Review
- APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors.Frontiers in immunology · 2013Review
- Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns.Journal of endocrinological investigation · 2012Article
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.International journal of endocrinology · 2012Article
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9 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundAutoimmune 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).
aimWe analyzed AIRE gene mutations and genotype-phenotype correlation in APECED patients originating from Sicily and in their relatives. SUBJECTS AND
methodsIn 4 patients, clinical evaluations, genetic analysis of AIRE, and APECED-related autoantibodies were performed.
resultsTwo 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.
conclusionsIn 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.
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