ArticleNPJ genomic medicine2021
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.
Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.Clinical immunology (Orlando, Fla.) · 2022Pooled it
- Design and Synthesis of Novel Isoflavene TANK-Binding Kinase 1 Inhibitors With Anti-Inflammatory Activity.ChemMedChem · 2026Article
- Characteristics of Mycobacterial, COVID-19, and Talaromyces Marneffei Infections in Patients with IL12RB1 and IFNGR1 Mutations in Western China.Journal of clinical immunology · 2026Article
- Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis.Journal of human immunity · 2026Article
- Recurrent severe viral infection in a child with inherited complete TBK1 deficiency.Journal of human immunity · 2026Article
- The seven enigmas of SARS-CoV-2: from the past to the future.Journal of human immunity · 2025Article
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Human genetic and immunological determinants of SARS-CoV-2 infection and multisystem inflammatory syndrome in children.Clinical and experimental immunology · 2025Review
- Systematic assessment of COVID-19 host genetics using whole genome sequencing data.PLoS pathogens · 2024Article
- [Course of the COVID-19 pandemic in pediatric rheumatological patients in Germany during the first 3 years (2020-2022)].Zeitschrift fur Rheumatologie · 2024Article
- Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.International journal of molecular sciences · 2024Article
- An Overview of the Strategies to Boost SARS-CoV-2-Specific Immunity in People with Inborn Errors of Immunity.Vaccines · 2024Review
- In search of a function for human type III interferons: insights from inherited and acquired deficits.Current opinion in immunology · 2024Review
- Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.The Journal of experimental medicine · 2024Article
- Multisystem inflammatory syndrome in children (MIS-C): Implications for long COVID.Inflammopharmacology · 2023Review
- Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants.Annual review of biomedical data science · 2023Review
- Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2023Article
- Interferon at the crossroads of SARS-CoV-2 infection and COVID-19 disease.The Journal of biological chemistry · 2023Review
- Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.Genome medicine · 2023Article
- Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity.The Journal of allergy and clinical immunology · 2023Review
Corrections and comments
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Authors and funding
18 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.