ArticleNature immunology2020
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.
Article in Nature immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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Who cites it
74 citing papers in PubMed, 148 citations in OpenAlex.
- Advancements in Diagnosis and Care for Immune Dysregulation and Inborn Errors of Immunity in Pediatric Rheumatology: Our 50-Year Journey.Arthritis care & research · 2026Review
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- ThebioRxiv : the preprint server for biology · 2026Article
- Inherited burden for disease predisposition in diverse populations.NPJ genomic medicine · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- Immune activation of primary human macrophages is suppressed by the coordinated action ofmBio · 2026Article
- Familial Mediterranean Fever: A Comprehensive Review of Pathogenesis, Genetics, and Epigenetic Regulation.Balkan medical journal · 2026Review
- Article
- Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA.Human genetics · 2025Article
- Molecular mechanisms and regulation of inflammasome activation and signaling: sensing of pathogens and damage molecular patterns.Cellular & molecular immunology · 2025Review
- Plagued by the Past, Pressed by the Present: A One Health Perspective onBiomedicines · 2025Review
- Serum endocan, asymmetric dimethylarginine and lipid profile in children with familial Mediterranean fever.Pediatric research · 2025Article
- Enigmatic link between familial mediterranean fever and dietary components: a novel approach to personalized nutrition.BMC nutrition · 2025Article
- Familial Mediterranean Fever; Recent Advances, Future Prospectives.Diagnostics (Basel, Switzerland) · 2025Review
- The "DDVF" motif used by viral and bacterial proteins to hijack RSK kinases mimics a short linear motif (SLiM) found in proteins related to the RAS-ERK MAP kinase pathway.PLoS pathogens · 2025Article
- Guards and decoys: RIPoptosome and inflammasome pathway regulators of bacterial effector-triggered immunity.PLoS pathogens · 2025Review
- Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.Clinical rheumatology · 2024Article
- Cholesterol sensing and metabolic adaptation in tissue immunity.Trends in immunology · 2024Review
- The past 25 years in paediatric rheumatology: insights from monogenic diseases.Nature reviews. Rheumatology · 2024Review
- Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.Journal of clinical immunology · 2024Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 7 institutions in 4 countries.
Funding
Abstract
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by homozygous or compound heterozygous gain-of-function mutations in MEFV, which encodes pyrin, an inflammasome protein. Heterozygous carrier frequencies for multiple MEFV mutations are high in several Mediterranean populations, suggesting that they confer selective advantage. Among 2,313 Turkish people, we found extended haplotype homozygosity flanking FMF-associated mutations, indicating evolutionarily recent positive selection of FMF-associated mutations. Two pathogenic pyrin variants independently arose >1,800 years ago. Mutant pyrin interacts less avidly with Yersinia pestis virulence factor YopM than with wild-type human pyrin, thereby attenuating YopM-induced interleukin (IL)-1β suppression. Relative to healthy controls, leukocytes from patients with FMF harboring homozygous or compound heterozygous mutations and from asymptomatic heterozygous carriers released heightened IL-1β specifically in response to Y. pestis. Y. pestis-infected Mefv
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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.