Infectious Diseases Unit, 3rd Department of Paediatrics, Faculty of Medicine, Aristotle University School of Health Sciences, Thessaloniki, Greece.
Clin Microbiol Infect. 2014 Dec;20(12):1254-64. doi: 10.1111/1469-0691.12800. Epub 2014 Dec 19.
Current knowledge on the human pathophysiology of fungal infections highlights the crucial role of genetic pitfalls in specific immunity pathways that determine, together with other risk factors, the predisposition to and clinical outcome of fungal disease. In several studies, associations between gene polymorphisms and genetic errors have been implicated in an immunodeficiency phenotype and an increased incidence of opportunistic fungal diseases. The major challenge is to fully understand the complex interactions between genetic variations and multiple factors, and their relative contributions to the final clinical fungal disease phenotype. The aim of this review is to present updated knowledge on immunity genetics and susceptibility to medically relevant fungal diseases, such as those caused by Candida, Aspergillus, and certain other more rare fungi.
目前，人类真菌感染病理生理学的知识强调了特定免疫途径中遗传缺陷的关键作用，这些免疫途径与其他风险因素一起决定了真菌感染的易感性和临床结果。在几项研究中，基因多态性和遗传错误之间的关联与免疫缺陷表型和机会性真菌感染的发生率增加有关。主要的挑战是充分了解遗传变异与多种因素之间的复杂相互作用及其对最终临床真菌感染表型的相对贡献。本综述的目的是介绍有关免疫遗传学和对医学相关真菌感染（如念珠菌、曲霉和某些其他更罕见真菌引起的感染）易感性的最新知识。
