Laboratory of Human Immunology and Infectious Diseases, Graduate Institute of Clinical Medical Sciences, Chang Gung University, Taoyuan, Taiwan.
Department of Nephrology, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
FEBS J. 2021 Sep;288(17):5021-5041. doi: 10.1111/febs.15961. Epub 2021 May 20.
Inborn errors of immunity (IEIs) are a group of genetically defined disorders leading to defective immunity. Some IEIs have been linked to mutations of immune receptors or signaling molecules, resulting in defective signaling of respective cascades essential for combating specific pathogens. However, it remains incompletely understood why in selected IEIs, such as X-linked lymphoproliferative syndrome type 2 (XLP-2), hypo-immune response to specific pathogens results in persistent inflammation. Moreover, mechanisms underlying the generation of anticytokine autoantibodies are mostly unknown. Recently, IEIs have been associated with coronavirus disease 2019 (COVID-19), with a small proportion of patients that contract severe COVID-19 displaying loss-of-function mutations in genes associated with type I interferons (IFNs). Moreover, approximately 10% of patients with severe COVID-19 possess anti-type I IFN-neutralizing autoantibodies. Apart from IEIs that impair immune responses to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), SARS-CoV-2 encodes several proteins that suppress early type I IFN production. One primary consequence of the lack of type I IFNs during early SARS-CoV-2 infection is the increased inflammation associated with COVID-19. In XLP-2, resolution of inflammation rescued experimental subjects from infection-induced mortality. Recent studies also indicate that targeting inflammation could alleviate COVID-19. In this review, we discuss infection-induced inflammation in IEIs, using XLP-2 and COVID-19 as examples. We suggest that resolving inflammation may represent an effective therapeutic approach to these diseases.
先天性免疫缺陷(IEI)是一组由遗传定义的导致免疫缺陷的疾病。一些 IEI 与免疫受体或信号分子的突变有关,导致针对特定病原体的相关级联反应的信号传导缺陷。然而,为什么在某些 IEI 中,如 X 连锁淋巴组织增生综合征 2 型(XLP-2),对特定病原体的免疫反应低下会导致持续的炎症,这仍不完全清楚。此外,产生抗细胞因子自身抗体的机制在很大程度上尚不清楚。最近,IEI 与 2019 年冠状病毒病(COVID-19)有关,一小部分患有严重 COVID-19 的患者显示出与 I 型干扰素(IFN)相关的基因的功能丧失突变。此外,约 10%的严重 COVID-19 患者具有抗 I 型 IFN 中和自身抗体。除了损害对严重急性呼吸综合征冠状病毒 2(SARS-CoV-2)的免疫反应的 IEI 之外,SARS-CoV-2 还编码几种抑制早期 I 型 IFN 产生的蛋白。在 SARS-CoV-2 早期感染期间缺乏 I 型 IFN 的一个主要后果是与 COVID-19 相关的炎症增加。在 XLP-2 中,炎症的解决挽救了实验对象免于感染诱导的死亡。最近的研究还表明,靶向炎症可能缓解 COVID-19。在这篇综述中,我们以 XLP-2 和 COVID-19 为例,讨论了 IEI 中的感染诱导炎症。我们认为,解决炎症可能是这些疾病的一种有效治疗方法。