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.
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。
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