ArticleAnnals of the rheumatic diseases2013
Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts.
Article in Annals of the rheumatic diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Evaluation of gene expression classification studies: factors associated with classification performance.PloS one · 2014Pooled it
- Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance.Proceedings of the National Academy of Sciences of the United States of America · 2015Trial
- Cofilin-1 is a redox-sensitive guard of the NLRP3 inflammasome.Nature immunology · 2026Article
- Spontaneous NLRP3 inflammasome-driven IL-1-β secretion is induced in severe COVID-19 patients and responds to anakinra treatment.The Journal of allergy and clinical immunology · 2022Article
- The immunoregulatory function of peripheral blood CD71Scientific reports · 2021Article
- The Association of ATG16L1 Variations with Clinical Phenotypes of Adult-Onset Still's Disease.Genes · 2021Article
- CARD8 SNP rs11672725 Identified as a Potential Genetic Variant for Adult-Onset Still's Disease.Life (Basel, Switzerland) · 2021Article
- Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.International journal of environmental research and public health · 2021Article
- Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate.Nature communications · 2020Article
- Platelets Fuel the Inflammasome Activation of Innate Immune Cells.Cell reports · 2020Article
- The Role of Epigenetics in Autoimmune/Inflammatory Disease.Frontiers in immunology · 2019Review
- Genetic signature related to heme-hemoglobin metabolism pathway in sepsis secondary to pneumonia.NPJ systems biology and applications · 2019Article
- Article
- Systemic autoinflammation with intractable epilepsy managed with interleukin-1 blockade.Journal of neuroinflammation · 2018Article
- Understanding Human Autoimmunity and Autoinflammation Through Transcriptomics.Annual review of immunology · 2017Review
- From bench to bedside and back again: translational research in autoinflammation.Nature reviews. Rheumatology · 2015Review
- Interleukin-1 as a common denominator from autoinflammatory to autoimmune disorders: premises, perils, and perspectives.Mediators of inflammation · 2015Review
- An expanding role for interleukin-1 blockade from gout to cancer.Molecular medicine (Cambridge, Mass.) · 2014Review
- Biomarkers in systemic juvenile idiopathic arthritis: a comparison with biomarkers in cryopyrin-associated periodic syndromes.Current opinion in rheumatology · 2014Review
- Treating inflammation by blocking interleukin-1 in humans.Seminars in immunology · 2013Review
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Authors and funding
12 authors.
Funding
Abstract
objectiveTo analyse gene expression patterns and to define a specific gene expression signature in patients with the severe end of the spectrum of cryopyrin-associated periodic syndromes (CAPS). The molecular consequences of interleukin 1 inhibition were examined by comparing gene expression patterns in 16 CAPS patients before and after treatment with anakinra.
methodsWe collected peripheral blood mononuclear cells from 22 CAPS patients with active disease and from 14 healthy children. Transcripts that passed stringent filtering criteria (p values≤false discovery rate 1%) were considered as differentially expressed genes (DEG). A set of DEG was validated by quantitative reverse transcription PCR and functional studies with primary cells from CAPS patients and healthy controls. We used 17 CAPS and 66 non-CAPS patient samples to create a set of gene expression models that differentiates CAPS patients from controls and from patients with other autoinflammatory conditions.
resultsMany DEG include transcripts related to the regulation of innate and adaptive immune responses, oxidative stress, cell death, cell adhesion and motility. A set of gene expression-based models comprising the CAPS-specific gene expression signature correctly classified all 17 samples from an independent dataset. This classifier also correctly identified 15 of 16 post-anakinra CAPS samples despite the fact that these CAPS patients were in clinical remission.
conclusionsWe identified a gene expression signature that clearly distinguished CAPS patients from controls. A number of DEG were in common with other systemic inflammatory diseases such as systemic onset juvenile idiopathic arthritis. The CAPS-specific gene expression classifiers also suggest incomplete suppression of inflammation at low doses of anakinra.
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