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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: OBJECTIVE, METHODS, RESULTS. Meshes: Adolescent, Adult, Candida albicans, Candidiasis, Chronic Mucocutaneous, Child, Child, Preschool, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Humans, Italy, Male, Middle Aged, Polyendocrinopathies, Autoimmune, beta-Defensins.
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Is β-defensin CNV associated with susceptibility to Candida albicans infections in Sardinian APS I patients? Context: The aim of this study was to investigate whether a variation in the genomic copy number (CNV) of the β-defensin cluster could be associated with the pre-disposition to chronic mucocutaneous candidiasis (CMC) in Sardinian APECED patients. The β-defensin copy number variation was determined by MLPA analysis in 18 Sardinian APECED patients with CMC and in 21 Sardinian controls. Statistical analyses were performed with one-way ANOVA test. No statistically significant results were observed between the patients and controls groups.
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According to the results we have obtained, it appears that either β-defensin genomic CNV is not a modifier locus for CMC susceptibility in APECED patients, or any effect is too small for it to be detected using such sample size. An extensive study on APECED patients from different geographical areas might reveal the real implication of the β-defensin CNV in the susceptibility to Candida albicans infections. Final Decision: no