Division of Infection and Immunity and Systems Immunity Research Institute, Cardiff University School of Medicine, Cardiff, United Kingdom.
Centre for Host-Microbiome Interactions, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London, United Kingdom.
J Infect Dis. 2021 Oct 13;224(7):1219-1224. doi: 10.1093/infdis/jiab145.
Immunocompromised patients are highly susceptible to invasive aspergillosis. Herein, we identified a homozygous deletion mutation (507 del C) resulting in a frameshift (N170I) and early stop codon in the fungal binding Dectin-2 receptor, in an immunocompromised patient. The mutated form of Dectin-2 was weakly expressed, did not form clusters at/near the cell surface and was functionally defective. Peripheral blood mononuclear cells from this patient were unable to mount a cytokine (tumor necrosis factor, interleukin 6) response to Aspergillus fumigatus, and this first identified Dectin-2-deficient patient died of complications of invasive aspergillosis.
免疫功能低下的患者极易感染侵袭性曲霉病。在此，我们在一名免疫功能低下的患者中发现了一个导致真菌结合受体 Dectin-2 发生移码突变（507delC）的纯合缺失突变（N170I）和提前终止密码子。突变形式的 Dectin-2 表达较弱，不能在细胞表面形成簇，且功能有缺陷。该患者的外周血单核细胞无法对烟曲霉产生细胞因子（肿瘤坏死因子、白细胞介素 6）反应，这也是首例鉴定的 Dectin-2 缺陷患者死于侵袭性曲霉病的并发症。
