Article ; Online: TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.
2021 Volume 6, Issue 1, Page(s) 55
Abstract: ... of coronavirus disease (COVID-19). The child had an autoinflammatory disorder of unknown etiology, which had been ... deleterious variants in the TBK1 gene have been associated with severe COVID-19, and the variant ... probably predisposed to lethal COVID-19 in the present case. ...
| 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. |
|---|---|
| Language | English |
| Publishing date | 2021-07-01 |
| Publishing country | England |
| Document type | Journal Article |
| ZDB-ID | 2813848-X |
| ISSN | 2056-7944 ; 2056-7944 |
| ISSN (online) | 2056-7944 |
| ISSN | 2056-7944 |
| DOI | 10.1038/s41525-021-00220-w |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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