Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections

被引：563

作者：

Ferwerda, Bart ^{[2
]}

Ferwerda, Gerben ^{[2
]}

Plantinga, Theo S. ^{[2
]}

Willment, Janet A. ^{[9
]}

van Spriel, Annemiek B. ^{[3
]}

Venselaar, Hanka ^{[4
]}

Elbers, Clara C. ^{[5
,6
]}

Johnson, Melissa D. ^{[10
]}

Cambi, Alessandra ^{[3
]}

Huysamen, Cristal ^{[9
]}

Jacobs, Liesbeth ^{[2
]}

Jansen, Trees ^{[2
]}

Verheijen, Karlijn ^{[2
]}

Masthoff, Laury ^{[2
]}

Morre, Servaas A. ^{[7
]}

Vriend, Gert ^{[4
]}

Williams, David L. ^{[11
]}

Perfect, John R. ^{[10
]}

Joosten, Leo A. B. ^{[2
]}

Wijmenga, Cisca ^{[5
,8
]}

van der Meer, Jos W. M. ^{[2
]}

Adema, Gosse J. ^{[3
]}

Kullberg, Bart Jan ^{[2
]}

Brown, Gordon D. ^{[9
]}

Netea, Mihai G. ^{[1
,2
]}

机构：

[1] Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Med 463, Nijmegen Inst Infect Inflammat & Immun, NL-6525 GA Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Dept Internal Med, NL-6525 GA Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Dept Tumor Immunol, NL-6525 GA Nijmegen, Netherlands

[4] Radboud Univ Nijmegen, Nijmegen Ctr Mol Life Sci, Ctr Mol & Biomol Informat, NL-6525 GA Nijmegen, Netherlands

[5] Univ Med Ctr Utrecht, Div Biomed Genet, Dept Med Genet, Complex Genet Sect, Utrecht, Netherlands

[6] Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands

[7] Vrije Univ Amsterdam, Immunogenet Lab, Amsterdam, Netherlands

[8] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[9] Univ Cape Town, Inst Infect Dis & Mol Med, ZA-7925 Cape Town, South Africa

[10] Duke Univ, Med Ctr, Div Infect Dis & Int Hlth, Durham, NC USA

[11] E Tennessee State Univ, Dept Surg, Johnson City, TN 37614 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2009年 / 361卷 / 18期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

TOLL-LIKE RECEPTORS; VAGINAL EPITHELIAL-CELLS; BETA-GLUCAN RECEPTOR; HYPER-IGE SYNDROME; CANDIDA-ALBICANS; HOST-DEFENSE; RECOGNITION; LECTIN; ASSOCIATION; INDUCTION;

D O I：

10.1056/NEJMoa0901053

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1760 / 1767

页数：8

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