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本文引用的文献

1
CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies.与皮下暗色丝孢霉病和TH17细胞缺陷相关的CARD9突变。
J Allergy Clin Immunol. 2014 Mar;133(3):905-8.e3. doi: 10.1016/j.jaci.2013.09.033. Epub 2013 Nov 11.
2
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.GATA2 缺陷:一种造血、淋巴和免疫功能多样的疾病。
Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13.
3
CX3CR1-dependent renal macrophage survival promotes Candida control and host survival.CX3CR1 依赖性肾脏巨噬细胞存活促进念珠菌控制和宿主存活。
J Clin Invest. 2013 Dec;123(12):5035-51. doi: 10.1172/JCI71307. Epub 2013 Nov 1.
4
The altered landscape of the human skin microbiome in patients with primary immunodeficiencies.原发性免疫缺陷患者皮肤微生物组的改变。
Genome Res. 2013 Dec;23(12):2103-14. doi: 10.1101/gr.159467.113. Epub 2013 Oct 29.
5
Deep dermatophytosis and inherited CARD9 deficiency.深部皮肤癣菌病和遗传性 CARD9 缺陷。
N Engl J Med. 2013 Oct 31;369(18):1704-1714. doi: 10.1056/NEJMoa1208487. Epub 2013 Oct 16.
6
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.ACT1 突变选择性地消除了慢性黏膜皮肤念珠菌病患者对白细胞介素-17 的反应。
Immunity. 2013 Oct 17;39(4):676-86. doi: 10.1016/j.immuni.2013.09.002. Epub 2013 Oct 10.
7
Extrathymic Aire-expressing cells are a distinct bone marrow-derived population that induce functional inactivation of CD4⁺ T cells.骨髓来源的表达 Aire 的细胞是一个独特的群体,可诱导 CD4+T 细胞功能失活。
Immunity. 2013 Sep 19;39(3):560-72. doi: 10.1016/j.immuni.2013.08.005. Epub 2013 Aug 29.
8
C-type lectin receptors Dectin-3 and Dectin-2 form a heterodimeric pattern-recognition receptor for host defense against fungal infection.C 型凝集素受体 Dectin-3 和 Dectin-2 形成异二聚体模式识别受体,有助于宿主防御真菌感染。
Immunity. 2013 Aug 22;39(2):324-34. doi: 10.1016/j.immuni.2013.05.017. Epub 2013 Aug 1.
9
Skin microbiome imbalance in patients with STAT1/STAT3 defects impairs innate host defense responses.STAT1/STAT3缺陷患者的皮肤微生物群失衡会损害宿主的先天性防御反应。
J Innate Immun. 2014;6(3):253-62. doi: 10.1159/000351912. Epub 2013 Jun 22.
10
Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion.持续使用粒细胞集落刺激因子(G-CSF)治疗孤立性慢性黏膜皮肤念珠菌病:临床完全缓解且白细胞介素-17分泌恢复。
J Allergy Clin Immunol. 2013 Sep;132(3):761-764. doi: 10.1016/j.jaci.2013.04.018. Epub 2013 Jun 20.

人类易患真菌感染的孟德尔遗传学。

Mendelian genetics of human susceptibility to fungal infection.

作者信息

Lionakis Michail S, Netea Mihai G, Holland Steven M

机构信息

Fungal Pathogenesis Unit, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892.

Department of Internal Medicine, and Nijmegen Institute for Infection, Inflammation and Immunity (N4i), Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

出版信息

Cold Spring Harb Perspect Med. 2014 Jun 2;4(6):a019638. doi: 10.1101/cshperspect.a019638.

DOI:10.1101/cshperspect.a019638
PMID:24890837
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4031953/
Abstract

A recent surge in newly described inborn errors of immune function-related genes that result in susceptibility to fungal disease has greatly enhanced our understanding of the cellular and molecular basis of antifungal immune responses. Characterization of single-gene defects that predispose to various combinations of superficial and deep-seated infections caused by yeasts, molds, and dimorphic fungi has unmasked the critical role of novel molecules and signaling pathways in mucosal and systemic antifungal host defense. These experiments of nature offer a unique opportunity for developing new knowledge in immunological research and form the foundation for devising immune-based therapeutic approaches for patients infected with fungal pathogens.

摘要

最近,新发现的与免疫功能相关基因的先天性缺陷激增,这些缺陷会导致对真菌疾病的易感性,这极大地增进了我们对抗真菌免疫反应的细胞和分子基础的理解。对导致由酵母、霉菌和双态真菌引起的各种浅表和深部感染组合易感性的单基因缺陷的表征,揭示了新分子和信号通路在粘膜和全身抗真菌宿主防御中的关键作用。这些自然实验为免疫研究开发新知识提供了独特机会,并为设计针对感染真菌病原体患者的基于免疫的治疗方法奠定了基础。