ArticleJCI insight2023
A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.
Article in JCI insight, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Dilemma between knife and needle for acute abdominal pain in familial Mediterranean fever: Two case reports and literature review.World journal of clinical pediatrics · 2026Article
- Complement and inflammasome crosstalk in chronic inflammation.Frontiers in immunology · 2026Review
- Probenecid Inhibits NLRP3 Inflammasome Activity and Mitogen-Activated Protein Kinases (MAPKs).Biomolecules · 2025Article
- A novel seven-tier framework for the classification of MEFV missense variants using adaptive and rigid classifiers.Scientific reports · 2025Article
- Generation of iPSCs from a Patient with the M694V Mutation in theInternational journal of molecular sciences · 2024Article
- Associations ofHeliyon · 2024Article
- Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes.Journal of clinical immunology · 2023Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pyrin, a protein encoded by the MEFV gene, plays a vital role in innate immunity by sensing modifications in Rho GTPase and assembling the pyrin inflammasome, which in turn activates downstream immune responses. We identified a novel and de novo MEFV p.E583A dominant variant in 3 patients from the same family; the variant was distinct from the previously reported S242 and E244 sites. These patients exhibited a phenotype that diverged from those resulting from classical MEFV gene mutations, characterized by the absence of recurrent fever but the presence of recurrent chest and abdominal pain. Colchicine effectively controlled the phenotype, and the mutation was found to induce pyrin inflammasome assembly and activation in patients' peripheral blood mononuclear cells (PBMCs) and cell lines. Mechanistically, truncation experiments revealed that the E583A variant affected the autoinhibitory structure of pyrin. Our study offers insights into the mechanisms underlying pyrin inflammasome activation.
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