ArticleImmunity2011
Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice.
Article in Immunity, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 239 papers, 4 of them syntheses that pooled it.
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
239 citing papers in PubMed, 4 syntheses or guidelines pooled it, 448 citations in OpenAlex.
- Behçet's Disease: A Comprehensive Review on the Role ofInternational journal of molecular sciences · 2023Pooled it
- To TRIM the Immunity: From Innate to Adaptive Immunity.Frontiers in immunology · 2020Pooled it
- What is the best acute phase reactant for familial Mediterranean fever follow-up and its role in the prediction of complications? A systematic review.Rheumatology international · 2016Pooled it
- Association between MEFV Mutations M694V and M680I and Behçet's Disease: A Meta-Analysis.PloS one · 2015Pooled it
- Mediterranean fever gene variants modify clinical phenotypes of idiopathic multi-centric Castleman disease.Clinical and experimental immunology · 2021Trial
- Monocyte-derived dendritic cells display a highly activated phenotype and altered function in patients with familial Mediterranean fever.Clinical and experimental immunology · 2020Trial
- Multiple Serum Cytokine Profiling to Identify Combinational Diagnostic Biomarkers in Attacks of Familial Mediterranean Fever.Medicine · 2016Trial
- WNK1 links ionic signals to microtubule dynamics to control pyrin inflammasome assembly.Science advances · 2026Article
- The gasdermin family: from pyroptosis mechanisms to therapeutic targets.Signal transduction and targeted therapy · 2026Review
- Clinical spectrum of pediatric patients carrying heterozygous MEFV gene variants.European journal of pediatrics · 2026Article
- PYRIN mActa pharmacologica Sinica · 2026Article
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.Clinical rheumatology · 2026Article
- Familial Mediterranean Fever and the Gut Microbiota: A Dual Perspective Review of Current Evidence.Mediterranean journal of rheumatology · 2026Review
- TRIM21 facilitates inflammasome assembly and contributes to autoinflammatory disease.Nature communications · 2026Article
- Cofilin-1 is a redox-sensitive guard of the NLRP3 inflammasome.Nature immunology · 2026Article
- An overview of human inflammasomes: Activation and regulation.Journal of immunology (Baltimore, Md. : 1950) · 2026Review
- Modulation of Inflammasome Activity by miR-197-3p in Familial Mediterranean Fever Mouse Macrophages.Archives of rheumatology · 2026Article
- PANoptosis as a drug discovery framework: integrating cell death architecture with clinical translation.Genes and immunity · 2026Review
- Familial Mediterranean Fever: A Comprehensive Review of Pathogenesis, Genetics, and Epigenetic Regulation.Balkan medical journal · 2026Review
179 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Missense mutations in the C-terminal B30.2 domain of pyrin cause familial Mediterranean fever (FMF), the most common Mendelian autoinflammatory disease. However, it remains controversial as to whether FMF is due to the loss of an inhibitor of inflammation or to the activity of a proinflammatory molecule. We generated both pyrin-deficient mice and "knockin" mice harboring mutant human B30.2 domains. Homozygous knockin, but not pyrin-deficient, mice exhibited spontaneous bone marrow-dependent inflammation similar to but more severe than human FMF. Caspase-1 was constitutively activated in knockin macrophages and active IL-1β was secreted when stimulated with lipopolysaccharide alone, which is also observed in FMF patients. The inflammatory phenotype of knockin mice was completely ablated by crossing with IL-1 receptor-deficient or adaptor molecule ASC-deficient mice, but not NLRP3-deficient mice. Thus, our data provide evidence for an ASC-dependent NLRP3-independent inflammasome in which gain-of-function pyrin mutations cause autoinflammatory disease.
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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.