A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19.
A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19.
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1例常染色体隐性干扰素α/β受体α链（IFNAR 1）缺乏症伴严重COVID-19。
DOI：
10.1007/s10875-021-01166-5
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发表时间：
2022-01
影响因子：
9.1
通讯作者：
Shirkani A
中科院分区：
文献类型：
--
作者：
Khanmohammadi S;Rezaei N;Khazaei M;Shirkani A
干扰素（IFN）在抗病毒免疫中起着至关重要的作用。干扰素受体、干扰素和抗干扰素自身抗体的遗传缺陷可能导致危及生命的传染病，如严重的COVID-19。1名13岁男孩，此前报告的干扰素α/β受体亚基1（IFNAR 1）（c.674-2A > G）纯合性功能丧失突变，被诊断为重度COVID-19。他入院时有感冒症状和高烧。他在对法匹拉韦无反应和低氧血症后被送入儿科重症监护室。高分辨率计算机断层扫描（HRCT）显示70%的肺受累，双肺广泛实变。患者开始接受抗生素、干扰素γ（IFN-γ）、Remdesivir、甲泼尼龙脉冲和其他药物治疗。然而，由于患者的不良副作用，Remdesivir和甲基强的松龙脉冲被停止。他的一般情况有所改善，几天后出院。我们报告了一例IFNAR 1突变的重症COVID-19患者。我们的研究结果表明，IFNAR 1缺乏症患者容易患上严重的COVID-19。此外，IFN-γ治疗可能是一种治疗IFN-α/β信号通路缺陷患者的潜在药物，有待进一步研究。
Interferons (IFNs) play a crucial role in antiviral immunity. Genetic defects in interferon receptors, IFNs, and auto-antibodies against IFNs can lead to the development of life-threatening forms of infectious diseases like a severe form of COVID-19. A 13-year-old boy with a previously reported homozygous loss-of-function mutation in interferon alpha/beta receptor subunit 1 (IFNAR1) (c.674-2A > G) was diagnosed with severe COVID-19. He had cold symptoms and a high-grade fever at the time of admission. He was admitted to the pediatric intensive care unit after showing no response to favipiravir and being hypoxemic. High-resolution computed tomography (HRCT) scanning revealed lung involvement of 70% with extensive areas of consolidation in both lungs. Antibiotics, interferon gamma (IFN-γ), remdesivir, methylprednisolone pulse, and other medications were started in the patient. However, remdesivir and methylprednisolone pulse were discontinued because of their adverse side effects in the patient. His general condition improved, and a few days later was discharged from the hospital. We reported a patient with severe COVID-19 who had a mutation in IFNAR1. Our finding suggests that patients with IFNAR1 deficiency are prone to severe forms of COVID-19. Besides, IFN-γ therapy may be a potential drug to treat patients with defects in IFN-α/β signaling pathways which needs further investigations.
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DOI：
10.1126/science.abd4585
发表时间：
2020-10-23
期刊：
Science (New York, N.Y.)
影响因子：
--
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Casanova JL
影响因子：
5
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Tuon FF
影响因子：
7.3
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影响因子：
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通讯作者：
Casanova JL
DOI：
10.1016/j.cmi.2021.02.013
发表时间：
2021-02-27
期刊：
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
影响因子：
--
作者：
Touafchia A;Bagheri H;Carrié D;Durrieu G;Sommet A;Chouchana L;Montastruc F
通讯作者：
Montastruc F