Abstract
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.
Original language | English |
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Pages (from-to) | 1760-1767 |
Number of pages | 8 |
Journal | The New England Journal of Medicine |
Volume | 361 |
Issue number | 18 |
DOIs | |
Publication status | Published - 29 Oct 2009 |
Keywords
- animals
- Candida albicans
- candidiasis
- candidiasis, chronic mucocutaneous
- candidiasis, vulvovaginal
- codon, nonsense
- cytokines
- female
- genetic predisposition to disease
- humans
- male
- mammals
- membrane proteins
- nerve tissue proteins
- onychomycosis
- pedigree