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10.1038/s41525-021-00220-w http://scihub22266oqcxt.onion/10.1038/s41525-021-00220-w 34210994!8249618!34210994     free     free     free Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 269.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       NPJ+Genom+Med 2021 ; 6 (1): 55 Nephropedia Template TP {{tp|p=34210994|t=2021. TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 |pdf=|usr=}}{{34210994}} gab.com Text TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 JO: NPJ Genom Med http://www.kidney.de/pget.php?&tw=1&pmid=34210994 #FOAvip 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. Twit Text FOAVip TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 ????NPJ Genom Med http://www.kidney.de/pget.php?&tw=1&pmid=34210994 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=34210994 #FOAvip English Wikipedia <ref>{{Cite pmid|34210994}}</ref> TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 #MMPMID34210994 Schmidt A; Peters S; Knaus A; Sabir H; Hamsen F; Maj C; Fazaal J; Sivalingam S; Savchenko O; Mantri A; Holzinger D; Neudorf U; Muller A; Ludwig KU; Krawitz PM; Engels H; Nothen MM; Bagci S NPJ Genom Med 2021[Jul]; 6 (1): 55 PMID34210994show ga 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. äTBK1 and TNFRSF13B mutations and an autoinflammatory disease in a chil(epmc).pdf DeepDyve Pubget Overpricing