Human dectin-1 deficiency and mucocutaneous fungal infections.

Full 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. 2009 Massachusetts Medical Society

Author information

Author/s: Ferwerda, Bart (B); Ferwerda, Gerben (G); Plantinga, Theo S (TS); Willment, Janet A (JA); van Spriel, Annemiek B (AB); Venselaar, Hanka (H); Elbers, Clara C (CC); Johnson, Melissa D (MD); Cambi, Alessandra (A); Huysamen, Cristal (C); Jacobs, Liesbeth (L); Jansen, Trees (T); Verheijen, Karlijn (K); Masthoff, Laury (L); Morré, Servaas A (SA); Vriend, Gert (G); Williams, David L (DL); Perfect, John R (JR); Joosten, Leo A B (LA); Wijmenga, Cisca (C); van der Meer, Jos W M (JW); Adema, Gosse J (GJ); Kullberg, Bart Jan (BJ); Brown, Gordon D (GD); Netea, Mihai G (MG);

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

Grants: 068545/Z/02 (Agency:Wellcome Trust) ; G0000934 (Agency:Medical Research Council)

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: The New England journal of medicine (N Engl J Med), published in United States. (Language: eng)

Reference: 2009-Oct; vol 361 (issue 18) : pp 1760-7

Dates: Created 2009/10/29; Completed 2009/11/04; Revised 2009/11/05;

PMID: 19864674, status: MEDLINE (last retrieval date: 11/6/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

Comments and Corrections

CommentIn: N Engl J Med. 2009 Oct 29;361(18):1798-801. (PMID: 19864679)

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