TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

一名患致命 COVID-19 的儿童出现 TBK1 和 TNFRSF13B 突变和自身炎症性疾病

阅读:9
作者:Axel Schmidt #, Sophia Peters #, Alexej Knaus #, Hemmen Sabir, Frauke Hamsen, Carlo Maj, Julia Fazaal, Sugirthan Sivalingam, Oleksandr Savchenko, Aakash Mantri, Dirk Holzinger, Ulrich Neudorf, Andreas Müller, Kerstin U Ludwig, Peter M Krawitz, Hartmut Engels, Markus M Nöthen, Soyhan Bagci

Abstract

Among children, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections are typically mild. Here, we describe the case of a 3.5-year-old girl with an unusually severe presentation of coronavirus disease (COVID-19). The child had an autoinflammatory disorder of unknown etiology, which had been treated using prednisolone and methotrexate, and her parents were half cousins of Turkish descent. After 5 days of nonspecific viral infection symptoms, tonic-clonic seizures occurred followed by acute cardiac insufficiency, multi-organ insufficiency, and ultimate death. Trio exome sequencing identified a homozygous splice-variant in the gene TBK1, and a homozygous missense variant in the gene TNFRSF13B. Heterozygous deleterious variants in the TBK1 gene have been associated with severe COVID-19, and the variant in the TNFRSF13B gene has been associated with common variable immunodeficiency (CVID). We suggest that the identified variants, the autoinflammatory disorder and its treatment, or a combination of these factors probably predisposed to lethal COVID-19 in the present case.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。