Your browser doesn't support javascript.
loading
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.
Schmidt, Axel; Peters, Sophia; Knaus, Alexej; Sabir, Hemmen; Hamsen, Frauke; Maj, Carlo; Fazaal, Julia; Sivalingam, Sugirthan; Savchenko, Oleksandr; Mantri, Aakash; Holzinger, Dirk; Neudorf, Ulrich; Müller, Andreas; Ludwig, Kerstin U; Krawitz, Peter M; Engels, Hartmut; Nöthen, Markus M; Bagci, Soyhan.
Afiliación
  • Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Peters S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Knaus A; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Sabir H; Neonatology and Pediatric Intensive Care, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Hamsen F; Department of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany.
  • Maj C; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Fazaal J; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Sivalingam S; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Savchenko O; Institute for Medical Biometry, Informatics and Epidemiology, Medical Faculty, University of Bonn, Bonn, Germany.
  • Mantri A; Core Unit for Bioinformatics Data Analysis, Medical Faculty, University of Bonn, Bonn, Germany.
  • Holzinger D; Department of Diagnostic and Interventional Radiology, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Neudorf U; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Müller A; Department of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany.
  • Ludwig KU; Department of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany.
  • Krawitz PM; Neonatology and Pediatric Intensive Care, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Nöthen MM; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Bagci S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
NPJ Genom Med ; 6(1): 55, 2021 Jul 01.
Article en En | MEDLINE | ID: mdl-34210994
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.
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: NPJ Genom Med Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: NPJ Genom Med Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido