Department of Dermatology and Venerology, Peking University First Hospital, China; Research Center for Medical Mycology, Peking University, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, China; National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.
Department of Dermatology and Venerology, Peking University First Hospital, China; Research Center for Medical Mycology, Peking University, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, China; National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.
Curr Opin Microbiol. 2020 Dec;58:75-86. doi: 10.1016/j.mib.2020.09.002. Epub 2020 Oct 8.
Human fungal diseases are a significant global health problem affecting both immunocompromised and immunocompetent patients. Although patients with single-gene inborn errors account for only a small part of patients developing fungal infections, studies of these diseases significantly promoted our understanding of the general mechanisms involved in human antifungal immunity. Recently, substantial breakthroughs in monogenetic causes of fungal infections have been made, which have furthered our knowledge of both new genes of known infections and new phenotypes of reported genes. This review describes recent insights into the human monogenetic errors that cause fungal susceptibility alongside novel genes, phenotypes, and mechanisms of both innate and adaptive immunity. We hope that this review raises awareness of the recently identified monogenetic causes of fungal diseases to facilitate the development of new diagnostic and therapeutic approaches.
人类真菌病是一个全球性的重大健康问题，影响免疫功能低下和免疫功能正常的患者。尽管单基因遗传性疾病患者仅占发生真菌感染患者的一小部分，但这些疾病的研究显著促进了我们对人类抗真菌免疫所涉及的一般机制的理解。最近，在真菌感染的单基因病因方面取得了重大突破，这进一步加深了我们对已知感染的新基因和已报道基因的新表型的认识。本综述描述了人类单基因易感性相关的真菌病的最新见解，包括固有免疫和适应性免疫的新基因、新表型和机制。我们希望本综述能够提高对真菌病的最近确定的单基因病因的认识，从而促进新的诊断和治疗方法的发展。
