| Title | Human dectin-1 deficiency and mucocutaneous fungal infections. | | Author(s) | Ferwerda B, Ferwerda G, Plantinga TS, Willment JA, van Spriel AB, Venselaar H, Elbers CC, Johnson MD, Cambi A, Huysamen C, Jacobs L, Jansen T, Verheijen K, Masthoff L, Morré SA, Vriend G, Williams DL, Perfect JR, Joosten LA, Wijmenga C, van der Meer JW, Adema GJ, Kullberg BJ, Brown GD, Netea MG | | Institution | Department of Internal Medicine and the Nijmegen Institute for Infection, Inflammation, and Immunity, Radboud University Nijmegen, Nijmegen, The Netherlands. | | Source | N Engl J Med 2009 Oct 29; 361(18):1760-7. | | MeSH | 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
| | 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. | | Language | eng | | Pub Type(s) | Journal Article
Research Support, Non-U.S. Gov't
| | PubMed ID | 19864674 |
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