ArticleScientific reports2018
Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Rare germline JAK/STAT variants in a Korean cohort amplify innate immune responses to vaccination.iScience · 2025Article
- Article
- Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.Scientific reports · 2025Article
- Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors.Journal of clinical immunology · 2024Article
- Tyrosine kinase 2 modulates splenic B cells through type I IFN and TLR7 signaling.Cellular and molecular life sciences : CMLS · 2024Article
- In search of a function for human type III interferons: insights from inherited and acquired deficits.Current opinion in immunology · 2024Review
- Functional genomics in inborn errors of immunity.Immunological reviews · 2024Review
- A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.Journal of clinical immunology · 2023Article
- Article
- Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.The Journal of experimental medicine · 2022Article
- Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.The Journal of experimental medicine · 2022Article
- A Comprehensive Overview of Globally Approved JAK Inhibitors.Pharmaceutics · 2022Review
- A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program.PLoS genetics · 2022Article
- Review
- JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.The Journal of allergy and clinical immunology · 2021Review
- Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.The World Allergy Organization journal · 2021Review
- Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency.The Journal of clinical investigation · 2021Article
- From Science to Success? Targeting Tyrosine Kinase 2 in Spondyloarthritis and Related Chronic Inflammatory Diseases.Frontiers in genetics · 2021Review
- TYK2 in Tumor Immunosurveillance.Cancers · 2020Review
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Complete tyrosine kinase 2 (TYK2) deficiency has been previously described in patients with primary immunodeficiency diseases. The patients were infected with various pathogens, including mycobacteria and/or viruses, and one of the patients developed hyper-IgE syndrome. A detailed immunological investigation of these patients revealed impaired responses to type I IFN, IL-10, IL-12 and IL-23, which are associated with increased susceptibility to mycobacterial and/or viral infections. Herein, we report a recessive partial TYK2 deficiency in two siblings who presented with T-cell lymphopenia characterized by low naïve CD4
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