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首页> 外文期刊>The Journal of Clinical Investigation: The Official Journal of the American Society for Clinical Investigation >Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19?
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Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19?

机译:单基因先天性免疫缺陷是否会导致对严重COVID-19的易感性?

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摘要

The SARS-CoV-2 virus, which causes COVID-19, has been associated globally with substantial morbidity and mortality. Numerous reports over the past year have described the clinical and immunological profiles of COVID-19 patients, and while some trends have emerged for risk stratification, they do not provide a complete picture. Therefore, efforts are ongoing to identify genetic susceptibility factors of severe disease. In this issue of the JCI, Povysil et al. performed a large, multiple-country study, sequencing genomes from patients with mild and severe COVID-19, along with population controls. Contrary to previous reports, the authors observed no enrichment of predicted loss-of-function variants in genes in the type I interferon pathway, which might predispose to severe disease. These studies suggest that more evidence is needed to substantiate the hypothesis for a genetic immune predisposition to severe COVID-19, and highlights the importance of considering experimental design when implicating a monogenic basis for severe disease.
机译:导致COVID-19的SARS-CoV-2病毒在全球范围内与大量发病率和死亡率有关。过去一年的大量报告描述了 COVID-19 患者的临床和免疫学特征,虽然出现了一些风险分层趋势,但它们并不能提供完整的情况。因此,正在努力确定严重疾病的遗传易感因素。在本期 JCI 中,Povysil 等人进行了一项大型的多国研究,对轻度和重度 COVID-19 患者的基因组进行了测序,并进行了人群对照。与之前的报道相反,作者没有观察到I型干扰素通路中预测的功能丧失变异的富集,这可能使严重疾病易感。这些研究表明,需要更多的证据来证实重症 COVID-19 的遗传免疫易感性的假设,并强调了在涉及重症的单基因基础时考虑实验设计的重要性。

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