Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Curr Opin Pediatr. 2020 Dec;32(6):780-789. doi: 10.1097/MOP.0000000000000948.
Fungal infections have steadily increased in incidence, emerging as a significant cause of morbidity and mortality in patients with iatrogenic immunosuppression. Simultaneously, we have witnessed a growing population of newly described inherited immune disorders that have enhanced our understanding of the human immune response against fungi. In the present review, we provide an overview and diagnostic roadmap to inherited disorders which confer susceptibility to superficial and invasive fungal infections.
Inborn errors of fungal immunity encompass a heterogeneous group of disorders, some of which confer fungal infection-specific susceptibility, whereas others also feature broader infection vulnerability and/or noninfectious manifestations. Infections by Candida, Aspergillus, endemic dimorphic fungi, Pneumocystis, and dermatophytes along with their organ-specific presentations provide clinicians with important clues in the assessment of patients with suspected immune defects.
The absence of iatrogenic risk factors should raise suspicion for inborn errors of immunity in children and young adults with recurrent or severe fungal diseases. Expeditious diagnosis and prompt initiation of antifungal therapy and management of complications are paramount to achieve remission of fungal disease in the setting of primary immunodeficiency disorders.
真菌感染的发病率稳步上升，已成为医源性免疫抑制患者发病率和死亡率的重要原因。与此同时，我们也见证了越来越多新描述的遗传性免疫紊乱，这增强了我们对人类针对真菌的免疫反应的理解。在本综述中，我们提供了一个概述和诊断路线图，介绍了易患浅表和侵袭性真菌感染的遗传性疾病。
真菌免疫的先天缺陷包括一组异质性疾病，其中一些赋予了对真菌感染的特异性易感性，而另一些则具有更广泛的感染易感性和/或非传染性表现。对念珠菌、曲霉、地方性双相真菌、卡氏肺孢子虫和皮肤真菌的感染及其特定器官表现为临床医生评估疑似免疫缺陷患者提供了重要线索。
在反复或严重真菌感染的儿童和年轻成人中，若不存在医源性危险因素，应怀疑存在先天性免疫缺陷。在原发性免疫缺陷疾病中，快速诊断、及时开始抗真菌治疗和处理并发症对于实现真菌感染的缓解至关重要。
