ReviewJournal of clinical immunology2021
Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.
Review in Journal of clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed.
- Two novel kindreds with autosomal recessive STAT2 deficiency.Journal of human immunity · 2026Article
- STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy.Journal of human immunity · 2026Article
- Transcriptome Analysis of TGFBI Knockdown vs Normal Corneal Epithelial Cells: Implications for TGFBI Corneal Dystrophy Treatment.Biochemical genetics · 2026Article
- IL-6 is one of the key factors in the formation of gut tissue resident memory T cells from Naïve T cells.PLoS pathogens · 2026Article
- Host factors in parainfluenza virus replication: from entry to innate immunity evasion.Frontiers in immunology · 2026Review
- Different Susceptibility of Mammalian Cell Lines to Severe Fever with Thrombocytopenia Syndrome Virus Infection.Viruses · 2025Article
- Allogeneic hematopoietic cell transplantation for autoinflammatory disorders.International journal of hematology · 2025Review
- Malignant JAK-signaling: at the interface of inflammation and malignant transformation.Leukemia · 2025Review
- Learning from inborn errors of immunity and secondary immune deficiencies about vaccine immunogenicity, efficacy, and safety.Clinical and experimental immunology · 2025Review
- Opinion: Why paediatric rheumatologists need to understand inborn errors of immunity.Frontiers in pediatrics · 2025Article
- Infections in Inborn Errors of STATs.Pathogens (Basel, Switzerland) · 2024Review
- Molecular determinants of cross-species transmission in emerging viral infections.Microbiology and molecular biology reviews : MMBR · 2024Review
- Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.The Journal of experimental medicine · 2024Article
- Spotlight: "Human STAT2 deficiency: a severe defect of antiviral immunity".Genes and immunity · 2024Article
- Estrogen receptor α-mediated signaling inhibits type I interferon response to promote breast carcinogenesis.Journal of molecular cell biology · 2024Article
- Signal Transducer and Activator of Transcription Proteins at the Nexus of Immunodeficiency, Autoimmunity and Cancer.Biomedicines · 2023Review
- Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children.Journal of clinical immunology · 2023Article
- Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.The Journal of clinical investigation · 2023Article
- Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity: Lessons from Patients and Mouse Models of Disease.Journal of immunology (Baltimore, Md. : 1950) · 2023Review
- Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.Journal of clinical immunology · 2023Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
STAT2 is distinguished from other STAT family members by its exclusive involvement in type I and III interferon (IFN-I/III) signaling pathways, and its unique behavior as both positive and negative regulator of IFN-I signaling. The clinical relevance of these opposing STAT2 functions is exemplified by monogenic diseases of STAT2. Autosomal recessive STAT2 deficiency results in heightened susceptibility to severe and/or recurrent viral disease, whereas homozygous missense substitution of the STAT2-R148 residue is associated with severe type I interferonopathy due to loss of STAT2 negative regulation. Here we review the clinical presentation, pathogenesis, and management of these disorders of STAT2.
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