Affinage

MEFV

Pyrin · UniProt O15553

Length
781 aa
Mass
86.4 kDa
Annotated
2026-06-10
100 papers in source corpus 12 papers cited in narrative 12 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MEFV encodes pyrin, a myelomonocytic innate immune sensor that nucleates an inflammasome to activate caspase-1 and drive IL-1β maturation and pyroptotic cell death (PMID:27270401, PMID:33733382). Pyrin activity is restrained by a RhoA→PKN1/PKN2 axis: active RhoA drives PKN1/PKN2 to phosphorylate pyrin, generating phospho-sites that recruit 14-3-3 proteins which block inflammasome assembly, so loss of RhoA activity (as occurs with defective prenylation in HIDS) dephosphorylates pyrin and releases the brake (PMID:27270401). Familial Mediterranean fever (FMF)-associated gain-of-function mutations such as M694V lower the activation threshold by reducing PKN/14-3-3 binding and by weakening a caspase-1 p20 negative-feedback loop that normally competes with the β2-microglobulin ligand at the pyrin PRY/SPRY domain to limit PSTPIP1/ASC recruitment (PMID:27270401, PMID:34880353); the dependence on pyrin dephosphorylation distinguishes FMF from related fevers (PMID:38231350). Pyrin abundance is itself transcriptionally tuned — MEFV is induced in granulocytes, monocytes and serosal fibroblasts by IFN-γ and proinflammatory signals and repressed by anti-inflammatory cytokines (PMID:10807793, PMID:11802319) — and is held in check by mTOR signaling, with mTOR inhibition raising MEFV expression and enhancing inflammasome activation (PMID:32989095). Pathogenic MEFV genotypes produce a gene-dose-dependent, IL-1- and NLRP3-independent neutrophil activation phenotype with spontaneous release of caspase-1, IL-18 and granule proteins (PMID:32655537).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2000 High

    Established that MEFV is a regulated proinflammatory gene rather than constitutively expressed, defining its myelomonocytic expression program and cytokine responsiveness.

    Evidence RT-PCR, in situ hybridization, and cytokine stimulation across hematopoietic differentiation and cell lines

    PMID:10807793

    Open questions at the time
    • Did not define the pyrin protein's molecular activity
    • Promoter elements mediating IFN-γ induction not mapped
  2. 2002 Medium

    Extended pyrin's expression and inflammatory function beyond neutrophils to serosal fibroblasts and linked it to C5a inhibitor activity.

    Evidence RT-PCR and C5a-induced myeloperoxidase assay in primary peritoneal fibroblasts and neutrophils

    PMID:11802319

    Open questions at the time
    • Mechanistic basis of the C5a inhibitor parallel not established
    • Single-lab semi-quantitative readout
  3. 2002 Medium

    Showed that MEFV transcript abundance scales inversely with mutation load and clinical severity, framing FMF partly as a dosage/expression phenomenon.

    Evidence Quantitative RT-PCR in genotype-stratified FMF patients, carriers, and controls

    PMID:12384939

    Open questions at the time
    • Correlative; does not establish causal direction between low mRNA and disease
    • Mechanism of reduced transcript not identified here
  4. 2011 Low

    Proposed multilayered MEFV regulation (promoter variants, splice variants/NMD, CpG methylation, caspase-1 cleavage of pyrin) integrating prior data.

    Evidence Review integrating RT-PCR, bisulfite sequencing, splice variant, and cleavage studies

    PMID:21776013

    Open questions at the time
    • Review-level synthesis without primary methodological detail
    • Functional consequence of pyrin cleavage products unresolved
  5. 2011 Low

    Provided direct correlative evidence that exon 2 CpG island methylation partially explains reduced MEFV expression in FMF.

    Evidence Quantitative RT-PCR and bisulfite sequencing in pediatric FMF patients and matched controls

    PMID:21819621

    Open questions at the time
    • Authors note a larger dataset needed to confirm
    • Effect size small; causal contribution to disease unclear
  6. 2016 High

    Resolved how pyrin activity is normally restrained, defining the RhoA→PKN1/PKN2→phospho-pyrin→14-3-3 brake and explaining both FMF (reduced PKN/14-3-3 binding) and HIDS (loss of prenylation/RhoA) mechanistically.

    Evidence Kinase and phosphorylation assays, Co-IP, mutant vs wild-type comparison, and FMF/HIDS patient cell functional assays

    PMID:27270401

    Open questions at the time
    • Does not define the activating ligand or assembly trigger of the inflammasome
    • Structural basis of 14-3-3 vs PKN engagement not resolved
  7. 2018 Medium

    Placed RAC1 upstream of caspase-1/IL-1β output and linked it to oxidative stress, expanding the Rho-family GTPase context of pyrin regulation.

    Evidence RAC1 inhibition in patient PBMCs/PMNs with caspase-1, IL-1β, and oxidative stress readouts

    PMID:30698144

    Open questions at the time
    • Direct molecular link between RAC1 and pyrin not demonstrated
    • Correlative genotype-expression data only
  8. 2020 Medium

    Identified mTOR as a transcriptional negative regulator of MEFV (downstream of RIPK3), connecting metabolic signaling to inflammasome priming.

    Evidence RIPK3 knockout BMDMs, mTOR inhibition, and murine peritonitis with transcriptional and inflammasome readouts

    PMID:32989095

    Open questions at the time
    • Transcription factors linking mTOR to MEFV not identified
    • Demonstrated in mouse; human relevance not confirmed here
  9. 2020 Medium

    Showed pathogenic MEFV drives spontaneous neutrophil activation independent of IL-1 and NLRP3 with a clear gene-dose effect, broadening the disease effector beyond IL-1β.

    Evidence Ex vivo patient neutrophil assays with ELISA, flow cytometry, and pharmacological dissection

    PMID:32655537

    Open questions at the time
    • Mechanism of IL-1-independent granule release unresolved
    • Whether this reflects pyrin inflammasome or a parallel pathway unclear
  10. 2021 Medium

    Identified β2-microglobulin as a PRY/SPRY-domain ligand triggering PSTPIP1/ASC recruitment, and defined caspase-1 p20 as a competing negative-feedback ligand weakened by M694V.

    Evidence Yeast two-hybrid, Co-IP, and co-localization in HEK293 cells and urate-stimulated neutrophils

    PMID:34880353

    Open questions at the time
    • No full reconstitution of the assembly step
    • Physiological relevance of β2MG as the activating signal in vivo not established
  11. 2021 Medium

    Demonstrated across 32 variants that pathogenic MEFV causes caspase-1-dependent pyroptosis and ASC speck formation, linking variant biochemistry to clinical severity.

    Evidence THP-1 transfection with cell death, ASC speck, IL-1β, and caspase-1 inhibition assays plus clustering

    PMID:33733382

    Open questions at the time
    • Overexpression system may not reflect endogenous thresholds
    • Mechanism distinguishing variant severity not molecularly resolved
  12. 2024 Medium

    Established that pyrin-dephosphorylation-dependent inflammasome activation is a feature specific to FMF mutations, distinguishing FMF from SURF and other fevers.

    Evidence Ex vivo PBMC stimulation with TcdA and UCN-01 across FMF, SURF, and PFAPA patient groups

    PMID:38231350

    Open questions at the time
    • Molecular basis of the SURF activation profile unknown
    • Causative gene(s) in SURF not addressed

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the physiological activating ligand, the RhoA/PKN brake, and the β2MG/caspase-1 p20 PRY-SPRY interactions are integrated into a single regulated assembly mechanism in vivo remains unresolved.
  • No reconstituted structural model of pyrin inflammasome assembly
  • Relationship between transcriptional (mTOR/methylation) and post-translational (phospho/14-3-3) control not unified
  • IL-1-independent neutrophil effector mechanism uncharacterized

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 2 GO:0140299 molecular sensor activity 2
Localization
GO:0005829 cytosol 1
Pathway
R-HSA-168256 Immune System 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-5357801 Programmed Cell Death 1
Partners
B2MCASP1PKN1PKN2PSTPIP1PYCARD (ASC)YWHA (14-3-3)
Complex memberships
pyrin inflammasome

Evidence

Reading pass · 12 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2016 RhoA activates serine-threonine kinases PKN1 and PKN2, which bind and phosphorylate pyrin (MEFV protein). Phosphorylated pyrin binds 14-3-3 proteins, which block pyrin inflammasome activation. FMF-associated mutant pyrin shows substantially decreased binding to both 14-3-3 and PKN proteins, explaining constitutive IL-1β release. Defects in prenylation (as in HIDS) lead to RhoA inactivation, consequent loss of PKN1/PKN2 activity, reduced pyrin phosphorylation, and pyrin inflammasome activation. Kinase assays, Co-immunoprecipitation, phosphorylation assays, peripheral blood mononuclear cell stimulation assays, PKN1/PKN2 activation experiments in FMF and HIDS patient cells Nature immunology High 27270401
2021 β2-microglobulin (β2MG) was identified as a novel pyrin ligand binding to the PRY/SPRY domain of pyrin/TRIM20. β2MG interaction triggers recruitment of PSTPIP1 and subsequent ASC recruitment to form the pyrin inflammasome. Caspase-1 p20 subunit (produced by activated pyrin inflammasome) also binds the PRY/SPRY domain and inhibits the pyrin-β2MG interaction as a negative feedback mechanism. The FMF-associated M694V mutation does not affect pyrin-β2MG interaction but weakens this caspase-1 p20 inhibitory feedback. Yeast two-hybrid screening, co-immunoprecipitation, co-localization imaging in HEK293 cells and monosodium urate-stimulated human neutrophils Scientific reports Medium 34880353
2020 RIPK3 promotes Mefv transcriptional upregulation through negative control of the mTOR signaling pathway (independent of MAPK and NF-κB signaling and independent of pyrin dephosphorylation). Inhibition of mTOR was sufficient to upregulate Mefv expression and enhance pyrin inflammasome activation. This establishes mTOR as a negative regulator of pyrin inflammasome activation via transcriptional control of MEFV. Bone marrow-derived macrophages with RIPK3 knockout, mTOR inhibition experiments, murine peritonitis model, transcriptional assays, inflammasome activation readouts Journal of immunology Medium 32989095
2021 Pathogenic MEFV variants induce caspase-1-dependent cell death (pyroptosis) accompanied by ASC speck formation and IL-1β secretion in THP-1 monocytes, confirming that disease-associated variants cause abnormal pyrin inflammasome activation. Variable degrees of spontaneous or toxin/kinase-inhibitor-induced cell death correlate with clinical phenotype severity across 32 variants. Transfection of THP-1 monocytes with 32 MEFV variants, flow cytometry-based cell death assay, ASC speck formation assay, IL-1β ELISA, caspase-1 inhibition, hierarchical cluster analysis, comparison with patient macrophage cell-based assay Journal of clinical immunology Medium 33733382
2024 In vitro functional analysis shows that SURF (syndrome of undifferentiated recurrent fever) patients display a distinct pyrin inflammasome activation profile from FMF: untreated SURF patients show reduced response to C. difficile toxin A (TcdA), normalized after colchicine treatment, and unlike FMF patients, SURF patients do not exhibit pyrin inflammasome activation in response to UCN-01-mediated pyrin dephosphorylation. This demonstrates that pyrin dephosphorylation-dependent inflammasome activation is a specific mechanistic feature of FMF-associated pyrin mutations. Ex vivo PBMC stimulation with TcdA and UCN-01 (PKC inhibitor causing pyrin dephosphorylation), ASC speck detection by flow cytometry, IL-1β ELISA, comparison across FMF, SURF, PFAPA patient groups Journal of clinical immunology Medium 38231350
2000 MEFV is expressed in a myelomonocytic-specific and proinflammatory pattern: expressed in granulocytes, eosinophils, and monocytes but not lymphocytes, and upregulated at the myelocyte stage during granulocytic differentiation. IFN-γ acts as an immediate-early inducer of MEFV expression (induction resistant to cycloheximide), and proinflammatory agents (TNF, LPS) also induce MEFV, while anti-inflammatory cytokines (IL-4, IL-10, TGF-β) inhibit expression. In granulocytes, MEFV is upregulated by IFN-γ and the combination of IFN-α and colchicine. RT-PCR, in situ hybridization, CD34 hematopoietic stem cell cultures, HL60/U937/THP-1 differentiation assays, cytokine stimulation, cycloheximide resistance test, promoter sequence analysis Blood High 10807793
2002 MEFV expression in peritoneal fibroblast cultures is inducible by colchicine and proinflammatory cytokines (IL-1β, TNF-α, IFN-α, IFN-γ) in parallel with induction of C5a inhibitor activity, with ~10-100-fold induction by cytokines. MEFV was also expressed in serosal tissues (peritoneal and synovial fibroblasts), not only neutrophils. RT-PCR, semi-quantitative RT-PCR, C5a-induced myeloperoxidase assay in human primary peritoneal fibroblast cultures and neutrophils with colchicine and cytokine treatments The Israel Medical Association journal Medium 11802319
2002 MEFV mRNA levels are significantly lower in FMF patients than healthy controls, with intermediate levels in healthy heterozygous carriers, demonstrating a dose-response relationship between mutation load and MEFV transcript abundance. MEFV mRNA expression inversely correlates with clinical severity score, and M694V mutation is associated with the lowest mRNA levels. Quantitative RT-PCR of MEFV transcripts in peripheral blood leukocytes from genotypically ascertained FMF patients, heterozygous carriers, and healthy controls Arthritis and rheumatism Medium 12384939
2018 RAC1 inhibition in FMF patient PBMCs and PMNs decreases caspase-1 and IL-1β production (but not IL-6), and reduces malondialdehyde (oxidative stress marker), while catalase and glutathione activities are increased upon RAC1 inhibition. RAC1 gene expression and IL-1β levels are elevated in patients during attacks and correlate with MEFV genotype (M694V/M694V shows ~2-fold higher RAC1 expression). This places RAC1 upstream of caspase-1 activation and IL-1β production in the FMF inflammatory pathway. Real-time PCR for RAC1 expression, ex vivo PBMC/PMN cultures with RAC1 inhibitor, caspase-1 ELISA, IL-1β ELISA, oxidative stress markers (malondialdehyde, catalase, glutathione) European cytokine network Medium 30698144
2011 MEFV expression depends on multiple regulatory levels including promoter variants, 3'-UTR sequences, and DNA methylation of a CpG island spanning intron 1 and exon 2. Increased methylation of exon 2 CpG island negatively correlates with MEFV expression in FMF patients. At least 15 splice variants of MEFV have been identified, some regulated by nonsense-mediated decay in cell- and transcript-specific manners. Additionally, pyrin protein is cleaved by caspase-1, with full-length pyrin less abundant than the cleaved fragment in mononuclear cells from FMF patients (opposite pattern in granulocytes). Review integrating quantitative RT-PCR studies, bisulfite sequencing for methylation analysis, splice variant identification, caspase-1 cleavage assays Genes and immunity Low 21776013
2011 MEFV exon 2 CpG island methylation is slightly but significantly higher in FMF patients than controls, and negatively correlates with MEFV expression level in both groups (correlation stronger in FMF-only group), suggesting DNA methylation as a partial mechanism for reduced MEFV expression in FMF. Quantitative RT-PCR for MEFV expression, bisulfite sequencing for CpG methylation quantification in pediatric FMF patients and age/gender-matched healthy controls BMC medical genetics Low 21819621
2020 Neutrophils from FMF patients with two pathogenic MEFV mutations show spontaneous ex vivo release of IL-18, S100A12, caspase-1, proteinase 3, and myeloperoxidase, as well as spontaneous CD62L (L-selectin) shedding indicating activation. This activation is independent of IL-1 signaling and NLRP3 inflammasome. A gene-dose effect is demonstrated: heterozygous carriers show intermediate levels between homozygous patients and healthy controls. Ex vivo neutrophil culture, ELISA for cytokines and granule proteins, flow cytometry for CD62L, IL-1 blockade, NLRP3 inhibition, ATP/LPS stimulation, colchicine co-culture Frontiers in immunology Medium 32655537

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2016 Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS. Nature immunology 449 27270401
2001 The spectrum of Familial Mediterranean Fever (FMF) mutations. European journal of human genetics : EJHG 407 11464238
2000 The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 328 10807793
1998 Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Human molecular genetics 215 9668175
2000 The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Human mutation 137 10737995
2000 MEFV mutations in Behçet's disease. Human mutation 123 10980540
2005 Pharmacological and clinical basis of treatment of Familial Mediterranean Fever (FMF) with colchicine or analogues: an update. Current drug targets. Inflammation and allergy 122 15720245
2001 Polyarteritis nodosa in patients with Familial Mediterranean Fever (FMF): a concomitant disease or a feature of FMF? Seminars in arthritis and rheumatism 97 11182028
2005 MEFV gene is a probable susceptibility gene for Behçet's disease. Scandinavian journal of rheumatology 72 15903027
2007 Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa. The Journal of pediatrics 61 18035151
2009 The spectrum of MEFV clinical presentations--is it familial Mediterranean fever only? Rheumatology (Oxford, England) 57 19837680
2009 MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA. Rheumatology international 56 19579027
2017 MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever. Gene 55 28483595
2015 Familial Mediterranean fever without MEFV mutations: a case-control study. Orphanet journal of rare diseases 51 25887307
2008 MEFV mutation analysis of familial Mediterranean fever in Japan. Clinical and experimental rheumatology 47 18328141
2006 Are carriers for MEFV mutations "healthy"? Clinical and experimental rheumatology 47 17067442
2011 Familial Mediterranean fever (FMF) and multiple sclerosis: an association study in one of the world's largest FMF cohorts. European journal of neurology 44 21299735
2018 Familial Mediterranean fever (FMF) phenotype in patients homozygous to the MEFV M694V mutation. European journal of medical genetics 42 30171907
2012 Significance of MEFV gene R202Q polymorphism in Turkish familial Mediterranean fever patients. Gene 39 22771921
2004 The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus. Human mutation 39 15024744
2011 Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever. BMC medical genetics 34 21819621
2009 Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. Molecular biology reports 34 19253030
2002 Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever. Arthritis and rheumatism 34 12384939
2011 Prevalence of MEFV gene mutations and their clinical correlations in Turkish children with Henoch-Schönlein purpura. Acta paediatrica (Oslo, Norway : 1992) 32 21231959
2009 Prevalence and significance of MEFV gene mutations in a cohort of patients with rheumatoid arthritis. Joint bone spine 31 20031469
2020 Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever. Rheumatology (Oxford, England) 30 31411330
2020 Gene-Dose Effect of MEFV Gain-of-Function Mutations Determines ex vivo Neutrophil Activation in Familial Mediterranean Fever. Frontiers in immunology 30 32655537
2019 Clinical features and disease severity of Turkish FMF children carrying E148Q mutation. Journal of clinical laboratory analysis 30 30714637
2019 The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia. Turkish journal of medical sciences 30 30887796
2015 Association between MEFV Mutations M694V and M680I and Behçet's Disease: A Meta-Analysis. PloS one 30 26176758
2011 The regulation of MEFV expression and its role in health and familial Mediterranean fever. Genes and immunity 29 21776013
2004 [Familial Mediterranean Fever (FMF): from diagnosis to treatment]. Sante (Montrouge, France) 29 15745878
2020 FMF is not always "fever": from clinical presentation to "treat to target". Italian journal of pediatrics 28 31941537
2008 MEFV mutations in Japanese rheumatoid arthritis patients. Clinical and experimental rheumatology 28 19210876
2005 MEFV mutation carriers and diseases other than familial Mediterranean fever: proved and non-proved associations; putative biological advantage. Current drug targets. Inflammation and allergy 28 15720243
2011 Association between ABCB1 (MDR1) gene 3435 C>T polymorphism and colchicine unresponsiveness of FMF patients. Renal failure 27 21851199
2022 Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene. Current rheumatology reports 26 35435612
2015 Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease. Clinical and experimental immunology 26 25286988
2013 MEFV gene mutations in Henoch-Schönlein purpura. International journal of rheumatic diseases 26 23981758
2012 Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schönlein purpura without FMF symptoms. Rheumatology international 25 22451026
2013 Common MEFV gene mutations in Turkish patients with Behcet's disease. Gene 24 23973724
2011 Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study. Molecular biology reports 23 22207183
2020 Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon. Medical sciences (Basel, Switzerland) 21 32824452
2021 Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants. Journal of clinical immunology 20 33733382
2019 MEFV Gene-Related Enterocolitis Account for Some Cases Diagnosed as Inflammatory Bowel Disease Unclassified. Digestion 20 31494649
2009 MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 20 19934083
2021 Performance of the FMF First-Trimester Preeclampsia-Screening Algorithm in a High-Risk Population in The Netherlands. Fetal diagnosis and therapy 19 33401268
2013 MEFV gene mutations in Turkish children with juvenile idiopathic arthritis. European journal of pediatrics 19 23588594
2013 MEFV gene mutations and their clinical significance in Korean patients with adult-onset Still's disease. Clinical and experimental rheumatology 19 24064016
2024 Updates on the role of epigenetics in familial mediterranean fever (FMF). Orphanet journal of rare diseases 18 38409042
2020 British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature. Rheumatology (Oxford, England) 18 31384939
2019 MEFV gene mutations in children with Henoch-Schönlein purpura and their correlations-do mutations matter? Clinical rheumatology 18 30826945
2010 MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients. Rheumatology international 18 20224922
2024 Old paradigms and new concepts in familial Mediterranean fever (FMF): an update 2023. Rheumatology (Oxford, England) 17 37725337
2021 Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings. Molecular biology reports 17 33738724
2020 RIPK3 Promotes Mefv Expression and Pyrin Inflammasome Activation via Modulation of mTOR Signaling. Journal of immunology (Baltimore, Md. : 1950) 17 32989095
2018 Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever. Biochemical genetics 17 30284126
2004 Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis. Nephron. Clinical practice 17 15122067
2024 Experimental models in Familial Mediterranean Fever (FMF): Insights into pathophysiology and therapeutic strategies. Experimental and molecular pathology 16 38266955
2012 Reduced expression of NLRP3 and MEFV in human ischemic heart tissue. Biochemical and biophysical research communications 16 23206693
2014 MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study. Pediatric rheumatology online journal 15 24433404
2022 Does having MEFV gene sequence variants affect the clinical course and colchicine response in children with PFAPA syndrome? European journal of pediatrics 14 36376520
2018 RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients. European cytokine network 14 30698144
2017 MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis. PloS one 14 28800602
2014 MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura. Pediatric rheumatology online journal 14 25232290
2013 PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience. Iranian journal of pediatrics 14 25793047
2012 The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still's disease. Rheumatology international 14 23269568
2011 The frequency of MEFV gene mutations in Behcet's disease and their relation with clinical findings. Rheumatology international 14 21901355
2010 The rate of MEFV gene mutations in hematolymphoid neoplasms. International journal of immunogenetics 14 20518828
2008 MEFV gene 3'-UTR Alu repeat polymorphisms in patients with familial Mediterranean fever. Clinical and experimental rheumatology 14 19026119
2024 Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers. Journal of clinical immunology 13 38231350
2024 The significance of carrying MEFV variants in symptomatic and asymptomatic individuals. Clinical genetics 13 38818540
2022 MEFV and NLRP3 Inflammasome Expression Is Attributed to Immature Macrophages and Correlates with Serum Inflammatory Proteins in Crohn´s Disease Patients. Inflammation 13 35190924
2021 Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance. JAMA dermatology 13 34643647
2021 The PRY/SPRY domain of pyrin/TRIM20 interacts with β2-microglobulin to promote inflammasome formation. Scientific reports 13 34880353
2023 Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association. Clinical immunology (Orlando, Fla.) 12 37216220
2021 Prediction of More Severe MEFV Gene Mutations in Childhood. Turkish archives of pediatrics 12 35110061
2020 Neurological phenotypes in patients with NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants. Journal of neuroinflammation 12 32563262
2017 Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF. Clinical and experimental rheumatology 12 29148404
2012 MEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with Henoch-Schönlein purpura. Pneumologia (Bucharest, Romania) 12 22783597
2011 TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly, Thre399Ile) polymorphisms and myeloid cell TLR-2 and TLR-4 expression with the development of secondary amyloidosis in FMF. Inflammation 12 20714796
2007 Clinical study of 7 cases of familial Mediterranean fever with MEFV gene mutation. Internal medicine (Tokyo, Japan) 12 17329916
2002 Effect of colchicine and cytokines on MEFV expression and C5a inhibitor activity in human primary fibroblast cultures. The Israel Medical Association journal : IMAJ 12 11802319
2011 MEFV, TNFRSF1A and CARD15 mutation analysis in Behçet's disease. Clinical and experimental rheumatology 11 21385537
2001 MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever. The Israel Medical Association journal : IMAJ 11 11729572
2023 Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy. European journal of internal medicine 10 37183082
2022 MEFV Mutations in IBD Patients: A Systematic Review and Meta- analysis. Journal of gastrointestinal and liver diseases : JGLD 10 35306551
2022 The Preferential Use of Anakinra in Various Settings of FMF: A Review Applied to an Updated Treatment-Related Perspective of the Disease. International journal of molecular sciences 10 35409316
2021 Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV. Pediatrics international : official journal of the Japan Pediatric Society 10 33715276
2015 The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations. Clinical and experimental rheumatology 10 26399837
2010 High frequency of MEFV gene mutations in patients with myeloid neoplasm. International journal of hematology 10 20437121
2006 [Amyloidosis of familial Mediterranean fever (FMF)--insights to FMF phenotype II]. Harefuah 10 17111710
2022 Investigation of the relationship between disease severity and development of amyloidosis and genetic mutation in FMF disease. Irish journal of medical science 9 35972675
2021 Clinical significance of MEFV gene variation R202Q. Clinical rheumatology 9 34491459
2020 Chronic non-bacterial osteomyelitis: another disease associated with MEFV gene mutations. Clinical and experimental rheumatology 9 33253105
2019 MEFV gene mutations in neuro-Behçet's disease and neuro-Sweet disease. Annals of clinical and translational neurology 9 31682063
2018 MEFV gene mutations and clinical course in pediatric patients with Henoch-Schönlein purpura. Archivos argentinos de pediatria 9 29756710
2014 MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages. Clinical and experimental immunology 9 24965843
2012 Frequency of inherited variants in the MEFV gene in myelodysplastic syndrome and acute myeloid leukemia. International journal of hematology 9 22351163
2006 Genetic analysis of MEFV gene pyrin domain in patients with Behçet's disease. Mediators of inflammation 9 16951489

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