PubMed:19864674 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/19864674","sourcedb":"PubMed","sourceid":"19864674","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/19864674","text":"Human dectin-1 deficiency and mucocutaneous fungal infections.\nMucocutaneous fungal infections are typically found in patients who have no known immune defects. We describe a family in which four women who were affected by either recurrent vulvovaginal candidiasis or onychomycosis had the early-stop-codon mutation Tyr238X in the beta-glucan receptor dectin-1. The mutated form of dectin-1 was poorly expressed, did not mediate beta-glucan binding, and led to defective production of cytokines (interleukin-17, tumor necrosis factor, and interleukin-6) after stimulation with beta-glucan or Candida albicans. In contrast, fungal phagocytosis and fungal killing were normal in the patients, explaining why dectin-1 deficiency was not associated with invasive fungal infections and highlighting the specific role of dectin-1 in human mucosal antifungal 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