基因变异与真菌感染风险：最新进展
Genetic variation and fungal infection risk: State of the art.
作者信息
Lionakis Michail S
机构信息
Fungal Pathogenesis Section, Laboratory of Clinical Immunology & Microbiology (LCIM), National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
出版信息
Curr Fungal Infect Rep. 2019 Dec;13(4):250-259. doi: 10.1007/s12281-019-00362-6. Epub 2019 Nov 27.
PURPOSE OF REVIEW
Fungal infections cause significant mortality in patients with acquired immunodeficiencies including AIDS, hematological malignancies, transplantation, and receipt of corticosteroids, biologics or small-molecule kinase inhibitors that impair key immune pathways. The contribution of several such pathways in antifungal immunity has been uncovered by inherited immunodeficiencies featuring profound fungal susceptibility. Furthermore, the risk of fungal infection in patients with acquired immunodeficiencies may be modulated by single nucleotide polymorphisms (SNPs) in immune-related genes. This review outlines key features underlying human genetic fungal predisposition.
RECENT FINDINGS
The discovery of monogenic disorders that cause fungal disease and the characterization of immune-related gene SNPs that may regulate fungal susceptibility have provided important insights into how genetic variation affects development and outcome of fungal infections in humans.
SUMMARY
Recognition of individualized genetic fungal susceptibility traits in humans should help devise precision-medicine strategies for risk assessment, prognostication and treatment of patients with opportunistic fungal infections.
综述目的
真菌感染在获得性免疫缺陷患者中会导致显著的死亡率，这些患者包括艾滋病患者、血液系统恶性肿瘤患者、移植患者以及接受损害关键免疫途径的皮质类固醇、生物制剂或小分子激酶抑制剂治疗的患者。一些此类途径在抗真菌免疫中的作用已通过具有严重真菌易感性的遗传性免疫缺陷得以揭示。此外，获得性免疫缺陷患者发生真菌感染的风险可能会受到免疫相关基因中单核苷酸多态性（SNP）的调节。本综述概述了人类遗传性真菌易感性的关键特征。
最新发现
导致真菌病的单基因疾病的发现以及可能调节真菌易感性的免疫相关基因SNP的特征分析，为遗传变异如何影响人类真菌感染的发生发展及转归提供了重要见解。
总结
认识到人类个体的遗传性真菌易感性特征应有助于制定精准医学策略，用于机会性真菌感染患者的风险评估、预后判断及治疗。
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