ArticleGenes and immunity2003
Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients.
Article in Genes and immunity, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Role of Inflammasomes in Neuroimmune and Neurodegenerative Diseases: A Systematic Review.Mediators of inflammation · 2018Pooled it
- Co-occurrence of autoimmune diseases and metabolic disorders in familial mediterranean fever patients: review of literature and case reports.Frontiers in immunology · 2025Review
- Central nervous system manifestations of monogenic autoinflammatory disorders and the neurotropic features of SARS-CoV-2: Drawing the parallels.Frontiers in pediatrics · 2022Review
- Familial coexistence of demyelinating diseases and familial Mediterranean fever.Rheumatology international · 2022Review
- Positive effects of ocrelizumab in patients with familial mediterranean fever and coexistent multiple sclerosis.Archives of rheumatology · 2021Article
- Periodic fever syndromes: beyond the single gene paradigm.Pediatric rheumatology online journal · 2019Review
- The inflammasome pyrin contributes to pertussis toxin-induced IL-1β synthesis, neutrophil intravascular crawling and autoimmune encephalomyelitis.PLoS pathogens · 2014Article
- E148Q MEFV mutation carriage and longevity in individuals of Ashkenazi origin.Immunologic research · 2013Article
- Association of missense mutations of Mediterranean fever (MEFV) gene with multiple sclerosis in Turkish population.Journal of molecular neuroscience : MN · 2013Article
- T helper 17 polarization in familial Mediterranean fever.Genes and immunity · 2013Article
- Is there an association between familial Mediterranean fever and celiac disease?Clinical rheumatology · 2008Article
- Haplotypes of the interleukin 7 receptor alpha gene are correlated with altered expression in whole blood cells in multiple sclerosis.Genes and immunity · 2008Article
- Inflammatory/demyelinating central nervous system involvement in familial Mediterranean fever (FMF): coincidence or association?Journal of neurology · 2006Article
- Multiple sclerosis genetics: leaving no stone unturned.Genes and immunity · 2005Review
- Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene.Annals of the rheumatic diseases · 2005Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ancient founder mutations in the Mediterranean fever gene, MEFV, are associated with familial Mediterranean fever, a recessive, episodic, inflammatory disease. Since these mutations are reported to express with above normal levels of acute phase reactants in healthy heterozygotes we postulated that the heterozygous phenotype could aggravate the clinical expression of ongoing autoimmune diseases. This study evaluated progression to disability in relapsing-remitting multiple sclerosis (RR-MS) patients of non-Ashkenazi and Ashkenazi origin carrying an MEFV mutation, particularly the detrimental M694V, using the expanded disability status scale (EDSS). In the non-Ashkenazi patients group (n=48), carriers (n=17) presented with a two-fold higher fraction which reached EDSS=3.0 and 6.0 compared to noncarriers (n=31) despite a comparable mean of MS duration. The median time to reach EDSS=3.0 was 2 years in the carriers vs 10 years in noncarriers (P=0.007); The median time to reach EDSS=6.0 was 6 years vs 23 years, respectively (P=0.003). M694V heterozygous patients reached both EDSS milestones earlier than other patients. Progression to disability was not enhanced in Ashkenazi RR-MS carriers (n=12, noncarriers n=59). In conclusion, non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. The expressed mutation may increase inflammatory damage inflicted by autoimmune responses.
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