Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections
Institute of Infection and Immunity · University of Cape Town · +10 more institutions
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…
Citation impact
- FWCI
- 91.83
- Percentile
- 100%
- References
- 32
Authors
25Topics & keywords
- Chronic mucocutaneous candidiasis
- Candida albicans
- Phagocytosis
- Immunology
- Medicine
- Immune system
- Tumor necrosis factor alpha
- Mucocutaneous zone
- Good health and well-being