Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections
Copyright policy )Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections
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.
- East Tennessee State University United States
- Duke University Hospital United States
- Radboud University Nijmegen Netherlands
- Utrecht University Netherlands
- Amsterdam UMC, location VUmc Netherlands
Male, 610, N4i 1: Pathogenesis and modulation of inflammation, Nerve Tissue Proteins, NCMLS 6: Genetics and epigenetic pathways of disease, HOST-DEFENSE, Candida albicans, Onychomycosis, Animals, Humans, Genetic Predisposition to Disease, Lectins, C-Type, Candidiasis, Vulvovaginal, TOLL-LIKE RECEPTORS, CANDIDA-ALBICANS, Mammals, NCMLS 2: Immune Regulation, HYPER-IGE SYNDROME, NCMLS 1: Infection and autoimmunity, VAGINAL EPITHELIAL-CELLS, BETA-GLUCAN RECEPTOR, INDUCTION, Candidiasis, Chronic Mucocutaneous, RECOGNITION, Candidiasis, Membrane Proteins, ASSOCIATION, LECTIN, Pedigree, N4i 4: Auto-immunity, transplantation and immunotherapy, N4i 2: Invasive mycoses and compromised host, ONCOL 3: Translational research, Codon, Nonsense, Cytokines, Surgery, NCMLS 7: Chemical and physical biology, Female, Dectin-1
Male, 610, N4i 1: Pathogenesis and modulation of inflammation, Nerve Tissue Proteins, NCMLS 6: Genetics and epigenetic pathways of disease, HOST-DEFENSE, Candida albicans, Onychomycosis, Animals, Humans, Genetic Predisposition to Disease, Lectins, C-Type, Candidiasis, Vulvovaginal, TOLL-LIKE RECEPTORS, CANDIDA-ALBICANS, Mammals, NCMLS 2: Immune Regulation, HYPER-IGE SYNDROME, NCMLS 1: Infection and autoimmunity, VAGINAL EPITHELIAL-CELLS, BETA-GLUCAN RECEPTOR, INDUCTION, Candidiasis, Chronic Mucocutaneous, RECOGNITION, Candidiasis, Membrane Proteins, ASSOCIATION, LECTIN, Pedigree, N4i 4: Auto-immunity, transplantation and immunotherapy, N4i 2: Invasive mycoses and compromised host, ONCOL 3: Translational research, Codon, Nonsense, Cytokines, Surgery, NCMLS 7: Chemical and physical biology, Female, Dectin-1
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