Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 361, Issue 18, Pages 1760-1767Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa0901053
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Funding
- Netherlands Organization for Scientific Research
- Wellcome Trust [068545/Z/02]
- Dutch Cancer Society [2007-3917]
- U.K. Medical Research Council [G0000934]
- Medical Research Council [G0000934] Funding Source: researchfish
- MRC [G0000934] Funding Source: UKRI
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Mucocutaneous 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 defense.
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