ArticleJournal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research2018
Development of a Validated Interferon Score Using NanoString Technology.
Article in Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 3 of them syntheses that pooled it.
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Who cites it
103 citing papers in PubMed, 3 syntheses or guidelines pooled it, 180 citations in OpenAlex.
- Early peripheral blood MCEMP1 and HLA-DRA expression predicts COVID-19 prognosis.EBioMedicine · 2023Pooled it
- The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.Annals of the rheumatic diseases · 2022Pooled it
- A clinical score to guide in decision making for monogenic type I IFNopathies.Pediatric research · 2020Pooled it
- Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.The Journal of clinical investigation · 2020Trial
- Advancements in Diagnosis and Care for Immune Dysregulation and Inborn Errors of Immunity in Pediatric Rheumatology: Our 50-Year Journey.Arthritis care & research · 2026Review
- PathMED: an R toolkit for single-sample molecular scoring and machine learning with omics data.Bioinformatics (Oxford, England) · 2026Article
- Type I Interferon Signature is Associated With Lung Disease, Drug-Associated Immune Reactions, and Genetic Variation in Interferon-Linked Pathways in Still Disease.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Transcriptional Profiling Shows Dampening of Interferon Gene Signatures by NADInternational journal of molecular sciences · 2026Article
- Anifrolumab Treatment in Cutaneous Lupus Erythematosus with and without systemic involvement: A Retrospective Study.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026Article
- IRAK2 deficiency causes immune dysregulation through defective Myddosome assembly and enhanced interferon responses.Nature communications · 2026Article
- Pharmacological Characterization of GLPG3667, a Tyrosine Kinase 2-Selective Inhibitor, for the Treatment of Inflammatory and Autoimmune Diseases.Inflammation · 2026Article
- The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.The Journal of experimental medicine · 2026Article
- Mucosal IL-36 is a defining feature of severe paediatric bronchiolitis.Mucosal immunology · 2026Article
- [Interferon scores in the management of rheumatic systemic diseases].Zeitschrift fur Rheumatologie · 2026Review
- A novel stop-loss variant in ISG15 causes C-terminal dysfunction and impairs USP18-mediated negative feedback.Frontiers in immunology · 2026Article
- Age- and Sex-Dependent Variation in the Type I Interferon Signature of Healthy Individuals.Medicina (Kaunas, Lithuania) · 2025Article
- Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.Journal of clinical immunology · 2025Article
- Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease.Nature immunology · 2025Article
- Lichenoid graft-versus-host disease shows a high interferon score, with IFNAR1 inhibition preventing skin inflammation.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Article
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
43 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 4 institutions in 1 country.
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Abstract
Chronic elevation of interferon (IFN)-response genes (IRG) in a subset of patients with systemic immune-dysregulatory diseases, including the Mendelian Type-I IFN-mediated autoinflammatory diseases and some autoimmune diseases suggest a causative role of excessive IFN signaling in the disease pathogenesis and as target for treatment. We developed a 28-IFN response gene scoring system to calculate either a standardized or geomean score by customizing a NanoString assay to quantify the expression of putative IRGs. The gene targets were selected in patients with the IFN-mediated disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) and an adult patient with chronic hepatitis C who received the first dose of pegylated interferon alpha-2a. The putative target genes were validated in patients with STING-associated vasculopathy with onset in infancy (SAVI), a monogenic autoinflammatory disease caused by gain-of-function mutations in TMEM173 that encodes the viral sensor stimulator of IFN genes (STING), and had low expression in clinically active patients with the monogenic IL-1-mediated autoinflammatory disease, neonatal-onset multisystem inflammatory disease (NOMID) and in healthy controls. The score calculation on the NanoString assay is rapid and showed high reproducibility and low intra-, and interassay variability. The utility of this 28-gene IFN score may be explored in the diagnosis of patients with presumed interferonopathies and as a biomarker to assess disease activity, long-term outcome, and treatment responses.
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