Human dectin-1 deficiency and mucocutaneous fungal infections.
SourceThe New England Journal of Medicine, 361, 18, (2009), pp. 1760-7
Article / Letter to editor
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Laboratory of Genetic, Endocrine and Metabolic Diseases
The New England Journal of Medicine
SubjectN4i 1: Pathogenesis and modulation of inflammation; N4i 2: Invasive mycoses and compromised host; N4i 4: Auto-immunity, transplantation and immunotherapy; NCMLS 1: Infection and autoimmunity; NCMLS 2: Immune Regulation; NCMLS 6: Genetics and epigenetic pathways of disease; NCMLS 7: Chemical and physical biology; ONCOL 3: Translational research
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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