TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
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 etiolo...
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2021
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oai:doaj.org-article:4dce3d58fba2448da97475e6d1005e932021-12-02T18:18:47ZTBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-1910.1038/s41525-021-00220-w2056-7944https://doaj.org/article/4dce3d58fba2448da97475e6d1005e932021-07-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00220-whttps://doaj.org/toc/2056-7944Abstract 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.Axel SchmidtSophia PetersAlexej KnausHemmen SabirFrauke HamsenCarlo MajJulia FazaalSugirthan SivalingamOleksandr SavchenkoAakash MantriDirk HolzingerUlrich NeudorfAndreas MüllerKerstin U. LudwigPeter M. KrawitzHartmut EngelsMarkus M. NöthenSoyhan BagciNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-5 (2021) |
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Medicine R Genetics QH426-470 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 TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Axel Schmidt |
| title |
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 |
| title_short |
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 |
| title_full |
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 |
| title_fullStr |
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 |
| title_full_unstemmed |
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 |
| title_sort |
tbk1 and tnfrsf13b mutations and an autoinflammatory disease in a child with lethal covid-19 |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/4dce3d58fba2448da97475e6d1005e93 |
| work_keys_str_mv |
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| _version_ |
1718378212855119872 |