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N Engl J Med. 2009 Oct 29;361(18):1760-7. doi: 10.1056/NEJMoa0901053.

Human dectin-1 deficiency and mucocutaneous fungal infections.

Author information

1
Department of Internal Medicine and the Nijmegen Institute for Infection, Inflammation, and Immunity, Radboud University Nijmegen, Nijmegen, The Netherlands.

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.

PMID:
19864674
PMCID:
PMC2773015
DOI:
10.1056/NEJMoa0901053
[Indexed for MEDLINE]
Free PMC Article

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