Mediterranean fever

Summary

Gene Symbol: Mediterranean fever
Description: MEFV, pyrin innate immunity regulator
Alias: FMF, MEF, TRIM20, pyrin, Mediterranean fever, marenostrin
Species: human
Products:     Mediterranean fever

Top Publications

  1. van Gijn M, Soler S, de la Chapelle C, Mulder M, Ritorre C, Kriek M, et al. Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres. Eur J Hum Genet. 2008;16:1404-6 pubmed publisher
    Familial mediterranean fever (FMF) is a hereditary autoinflammatory autosomal recessive disease caused by mutations in the MEFV gene...
  2. Medlej Hashim M, Nehme N, Chouery E, Jalkh N, Megarbane A. 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. BMC Med Genet. 2010;11:87 pubmed publisher
    Familial Mediterranean fever is a recessive autoinflammatory disease frequently encountered in Armenians, Jews, Arabs and Turks. The MEFV gene is responsible for the disease...
  3. Notarnicola C, Didelot M, Kone Paut I, Seguret F, Demaille J, Touitou I. Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever. Arthritis Rheum. 2002;46:2785-93 pubmed
    Familial Mediterranean fever (FMF) is the most common inherited periodic syndrome...
  4. Booth D, Gillmore J, Lachmann H, Booth S, Bybee A, Soyturk M, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM. 2000;93:217-21 pubmed
    Familial Mediterranean fever (FMF) is classically an autosomal recessive periodic inflammatory disease occurring in Mediterranean and Middle Eastern populations...
  5. Lachmann H, Sengul B, Yavuzsen T, Booth D, Booth S, Bybee A, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford). 2006;45:746-50 pubmed
    To prospectively monitor inflammatory activity over a prolonged period in a cohort of Turkish patients with FMF, their healthy relatives and healthy controls and to relate this to their MEFV genotypes.
  6. Booth D, Gillmore J, Booth S, Pepys M, Hawkins P. Pyrin/marenostrin mutations in familial Mediterranean fever. QJM. 1998;91:603-6 pubmed
    Familial Mediterranean fever (FMF) is an inherited inflammatory disease that is frequently complicated by reactive systemic (AA) amyloidosis...
  7. El Gezery D, Abou Zeid A, Hashad D, El Sayegh H. MEFV gene mutations in Egyptian patients with familial Mediterranean fever. Genet Test Mol Biomarkers. 2010;14:263-8 pubmed publisher
    Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis. The disease affects mainly Mediterranean populations and is caused by mutations in the MEFV gene...
  8. Karban A, Dagan E, Eliakim R, Herman A, Nesher S, Weiss B, et al. Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease. Genes Immun. 2005;6:134-9 pubmed
    The concurrence of Crohn's disease (CD) and familial Mediterranean fever was repeatedly reported. In this study we determined the distribution and contribution of MEFV gene mutations to CD susceptibility and clinical heterogeneity...
  9. Nikibakhsh A, Houshmand M, Bagheri M, Zadeh H, Rad I. MEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with Henoch-Schönlein purpura. Pneumologia. 2012;61:84-7 pubmed
    ..So it is suggested that investigation of M694V mutations should be considered as genetic test for diagnosis of HSP among Iranian Azeri Turkish patients. ..

More Information

Publications88

  1. Gunel Ozcan A, Sayin D, Misirlioglu E, Guliter S, Yakaryilmaz F, Ensari C. The spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at Kirikkale University in Turkey. Mol Biol Rep. 2009;36:757-60 pubmed publisher
    Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder characterised by recurrent and self-limited abdominal pain, synovitis and pleuritis...
  2. Atagunduz M, Tuglular S, Kantarci G, Akoglu E, Direskeneli H. Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis. Nephron Clin Pract. 2004;96:c131-5 pubmed
    Familial Mediterranean fever (FMF) is the major cause of AA amyloidosis in Turkey. M694V mutation in MEFV gene was suggested to be associated with severe clinical features and amyloidosis of FMF...
  3. Mattit H, Joma M, Al Cheikh S, El Khateeb M, Medlej Hashim M, Salem N, et al. Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet. 2006;49:481-6 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disease mainly affecting particularly Arabs, Non-Ashkenazi Jews, Armenians, and Turks...
  4. He X, Lu H, Kang S, Luan J, Liu Z, Yin W, et al. MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children. Pediatr Nephrol. 2010;25:2077-82 pubmed publisher
    Henoch-Schönlein purpura (HSP) is a multifactorial inflammatory disease whose pathogenesis remains unknown. Pyrin encoded by the MEFV gene (NM_000243; OMIM 608107) is an important active member of the inflammasome and has been shown to ..
  5. Moradian M, Sarkisian T, Ajrapetyan H, Avanesian N. Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations. J Hum Genet. 2010;55:389-93 pubmed publisher
    Familial Mediterranean fever (FMF) is an autoinflammatory disorder generally caused by recessively inherited mutations in the MEFV gene...
  6. Federici L, Rittore Domingo C, Kone Paut I, Jorgensen C, Rodiere M, Le Quellec A, et al. A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis. 2006;65:1427-32 pubmed
    The diagnostic value of molecular analysis of the familial Mediterranean fever (FMF) gene (Mediterranean fever (MEFV)) has been well established only in patients selected on the basis of ethnic background or clinical criteria...
  7. Shoham N, Centola M, Mansfield E, Hull K, Wood G, Wise C, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A. 2003;100:13501-6 pubmed
    Pyrin, the familial Mediterranean fever protein, is found in association with the cytoskeleton in myeloid/monocytic cells and modulates IL-1beta processing, NF-kappaB activation, and apoptosis...
  8. Mikula M, Buller A, Sun W, Strom C. Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations. Genet Med. 2008;10:349-52 pubmed publisher
    To determine the carrier frequency of familial Mediterranean fever (FMF) mutations of individuals in three different US testing populations: Cystic fibrosis, Factor V Leiden, and Ashkenazi Jews...
  9. Weinert C, Grütter C, Roschitzki Voser H, Mittl P, Grutter M. The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever. J Mol Biol. 2009;394:226-36 pubmed publisher
    The inherited autoinflammatory syndrome familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever, which are independent of any bacterial or viral infections...
  10. Gershoni Baruch R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum. 2003;48:1149-55 pubmed
    The clinical profile in familial Mediterranean fever (FMF), including its major manifestation, amyloidosis, is influenced by MEFV allelic heterogeneity and other genetic and/or environmental factors...
  11. Yesilada E, Taskapan H, Gulbay G. Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey. Gene. 2012;511:371-4 pubmed publisher
    Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis. Mutations in the Mediterranean fever gene (MEFV) localized on the short arm of chromosome 16 cause FMF...
  12. Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001;9:473-83 pubmed
    Familial Mediterranean Fever (FMF) is the prototype of a group of inherited inflammatory disorders. The gene (MEFV) responsible for this disease, comprises 10 exons and 781 codons...
  13. Centola M, Wood G, Frucht D, Galon J, Aringer M, Farrell C, et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood. 2000;95:3223-31 pubmed
    Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and neutrophil-mediated serosal inflammation...
  14. Timmann C, Muntau B, Kuhne K, Gelhaus A, Horstmann R. Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease. Mutat Res. 2001;479:235-9 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV). We describe two novel missense mutations in MEFV, R653H and E230K...
  15. . A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17:25-31 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis...
  16. Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet. 1999;7:287-92 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of inflammation of serosal membranes. Amyloidosis is the most severe complication of the disease...
  17. Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey Moisan M, Dargemont C, et al. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Hum Mol Genet. 2000;9:3001-9 pubmed
    ..in MEFV, a gene encoding a protein (marenostrin/pyrin) of unknown function, are associated with familial Mediterranean fever, a genetic condition characterized by febrile episodes of serosal inflammation...
  18. Richards N, Schaner P, Diaz A, Stuckey J, Shelden E, Wadhwa A, et al. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J Biol Chem. 2001;276:39320-9 pubmed
    Patients with familial Mediterranean fever suffer sporadic inflammatory attacks characterized by fever and intense pain (in joints, abdomen, or chest)...
  19. Day T, Ramanan A, Hinks A, Lamb R, Packham J, Wise C, et al. Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis. Arthritis Rheum. 2008;58:2142-6 pubmed publisher
    ..Our findings raise the interesting possibility of a shared disease mechanism between the HPFS and psoriatic JIA, potentially involving abnormal production of interleukin-1beta. ..
  20. Gershoni Baruch R, Broza Y, Brik R. Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura. J Pediatr. 2003;143:658-61 pubmed
    Based on the fact that Henoch-Schönlein purpura (HSP) occurs in approximately 5% of persons with familial Mediterranean fever (FMF), we assessed the prevalence and significance of FMF gene mutations in children with one or more episodes ..
  21. Dode C, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, et al. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. Am J Med Genet. 2000;92:241-6 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessively inherited disease affecting patients of the Mediterranean basin. FMF is characterized by recurrent episodes of fever accompanied with topical signs of inflammation...
  22. Mansour I, Delague V, Cazeneuve C, Dode C, Chouery E, Pecheux C, et al. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Eur J Hum Genet. 2001;9:51-5 pubmed
    ..001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I). None of the patients carrying other mutations developed amyloidosis. ..
  23. Marek Yagel D, Berkun Y, Padeh S, Abu A, Reznik Wolf H, Livneh A, et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum. 2009;60:1862-6 pubmed publisher
    To define the molecular basis of familial Mediterranean fever (FMF) in patients with only 1 mutation in the MEFV gene...
  24. Fidder H, Chowers Y, Ackerman Z, Pollak R, Crusius J, Livneh A, et al. The familial Mediterranean fever (MEVF) gene as a modifier of Crohn's disease. Am J Gastroenterol. 2005;100:338-43 pubmed
    ..CD) has been reported to be more frequent among non-Ashkenazi Jewish patients suffering from familial Mediterranean fever (FMF)...
  25. Chae J, Wood G, Richard K, Jaffe H, Colburn N, Masters S, et al. The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment. Blood. 2008;112:1794-803 pubmed publisher
    Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV, which encodes a 781-amino acid protein denoted pyrin...
  26. Medlej Hashim M, Serre J, Corbani S, Saab O, Jalkh N, Delague V, et al. Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. Eur J Med Genet. 2005;48:412-20 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV...
  27. Ait Idir D, Khilan A, Djerdjouri B, El Shanti H. Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population. Rheumatology (Oxford). 2011;50:2306-10 pubmed publisher
    b>FMF is characterized by recurrent self-limiting episodes of fever and painful polyserositis. We aimed to study the spectrum and distribution of MEFV mutations in an Algerian patient cohort using a comprehensive mutation detection method...
  28. Aldea A, Calafell F, Arostegui J, Lao O, Rius J, Plaza S, et al. 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. Hum Mutat. 2004;23:399 pubmed
    Mutations at the MEFV gene cause, with various degrees of penetrance, familial Mediterranean fever (FMF). This disease is more prevalent in the Middle East than elsewhere, and most studies have focused on those populations...
  29. Ozen S, Bakkaloglu A, Yilmaz E, Duzova A, Balci B, Topaloglu R, et al. Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation?. J Rheumatol. 2003;30:2014-8 pubmed
    To analyze 70 individuals who were found to have the Mediterranean fever (MEFV) gene for the presence of definite familial Mediterranean fever (FMF) and to assess if they were prone to clinical and laboratory inflammation...
  30. Ozcakar Z, Yalcinkaya F, Cakar N, Acar B, Kasapcopur O, Ugüten D, et al. MEFV mutations modify the clinical presentation of Henoch-Schönlein purpura. J Rheumatol. 2008;35:2427-9 pubmed
    ..gene mutations in Turkish patients with Henoch-Schönlein purpura (HSP) but with no symptoms of familial Mediterranean fever (FMF)...
  31. Tsuchiya Suzuki A, Yazaki M, Nakamura A, Yamazaki K, Agematsu K, Matsuda M, et al. Clinical and genetic features of familial Mediterranean fever in Japan. J Rheumatol. 2009;36:1671-6 pubmed publisher
    Familial Mediterranean fever (FMF) is thought to be a rare disorder in Japan, and the clinical features of Japanese patients with FMF remain unclear. Our aim was to elucidate the clinical characteristics of FMF in Japanese patients...
  32. Ben Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?. Hum Mutat. 2000;15:385-6 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of serositis...
  33. Solak M, Yildiz H, Koken R, Erdogan M, Eser B, Sen T, et al. Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever. Genet Test. 2008;12:341-4 pubmed publisher
    Familial Mediterranean fever (FMF) is an autosomal recessive disorder, caused by mutations in MEFV gene that encodes pyrin protein...
  34. Rabinovich E, Shinar Y, Leiba M, Ehrenfeld M, Langevitz P, Livneh A. Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis. Scand J Rheumatol. 2007;36:48-52 pubmed
    ..Arterial or venous thrombosis occurs in about 25% of BD patients. Familial Mediterranean fever (FMF) is another inflammatory disorder, which stems from mutations in the FMF gene (MEFV) and shares a ..
  35. Yigit S, Bagci H, Ozkaya O, Ozdamar K, Cengiz K, Akpolat T. MEFV mutations in patients with familial Mediterranean fever in the Black Sea region of Turkey: Samsun experience [corrected]. J Rheumatol. 2008;35:106-13 pubmed
    To investigate MEFV mutations among patients with familial Mediterranean fever (FMF), their relatives, and healthy controls in the Black Sea region of Turkey; to compare 3 different MEFV mutation analysis methods; to evaluate the role of ..
  36. Bernot A, da Silva C, Petit J, Cruaud C, Caloustian C, Castet V, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet. 1998;7:1317-25 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of fever and serositis...
  37. Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, et al. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet. 1999;65:88-97 pubmed
    Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry...
  38. Kasifoglu T, Calisir C, Cansu D, Korkmaz C. The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis. Clin Rheumatol. 2009;28:41-6 pubmed publisher
    The objective of this study was to investigate the frequency of sacroiliitis in familial Mediterranean fever (FMF) patients and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis...
  39. Cosan F, Ustek D, Oku B, Duymaz Tozkir J, Cakiris A, Abaci N, et al. Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis. Arthritis Rheum. 2010;62:3232-6 pubmed publisher
    The pathogenesis of ankylosing spondylitis (AS) has a strong genetic contribution. Familial Mediterranean fever (FMF) is an autosomal recessively inherited autoinflammatory disorder caused by MEFV gene missense variations, and a clinical ..
  40. Kone Paut I, Hentgen V, Guillaume Czitrom S, Compeyrot Lacassagne S, Tran T, Touitou I. The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology (Oxford). 2009;48:840-2 pubmed publisher
    ..The clinical picture of French heterozygote patients with recurrent fevers resembles that of homozygote patients. Most of them required colchicine treatment. ..
  41. Rabinovich E, Livneh A, Langevitz P, Brezniak N, Shinar E, Pras M, et al. Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene. Ann Rheum Dis. 2005;64:1009-14 pubmed
    ..regulator of inflammation, and mutations in MEFV, the gene encoding pyrin, are the cause of familial Mediterranean fever. To determine if known mutations of MEFV are associated with rheumatoid arthritis (RA) morbidity or can ..
  42. Ustek D, Ekmekci C, Selcukbiricik F, Cakiris A, Oku B, Vural B, et al. Association between reduced levels of MEFV messenger RNA in peripheral blood leukocytes and acute inflammation. Arthritis Rheum. 2007;56:345-50 pubmed
    Familial Mediterranean fever (FMF) is associated with more than 70 missense mutations in the MEFV gene...
  43. Jarjour R. Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation. Mol Biol Rep. 2010;37:1-5 pubmed publisher
    Familial Mediterranean fever is an autosomal recessive disorder characterized by recurrent attacks of abdominal pain, synovitis and pleuritis. MEFV gene mutations are responsible for the disease...
  44. Koc B, Oktenli C, Bulucu F, Karadurmus N, Sanisoglu S, Gul D. The rate of pyrin mutations in critically ill patients with systemic inflammatory response syndrome and sepsis: a pilot study. J Rheumatol. 2007;34:2070-5 pubmed
    ..ill patients were found to carry some pyrin mutations; none had a history compatible with familial Mediterranean fever. We also found a high frequency of carriers in patients having pneumonia (30...
  45. Chae J, Wood G, Masters S, Richard K, Park G, Smith B, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci U S A. 2006;103:9982-7 pubmed
    Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorder with high carrier frequencies in the Middle East...
  46. Ozalkaya E, Mir S, Sozeri B, Berdeli A, Mutlubas F, Cura A. Familial Mediterranean fever gene mutation frequencies and genotype-phenotype correlations in the Aegean region of Turkey. Rheumatol Int. 2011;31:779-84 pubmed publisher
    Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting fever and serositis and caused by altered pyrin due to mutated MEFV gene...
  47. Pasa S, Altintas A, Devecioglu B, Cil T, Danis R, Isi H, et al. Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features. Amyloid. 2008;15:49-53 pubmed publisher
    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes...
  48. Yalcinkaya F, Ozcakar Z, Kasapcopur O, Ozturk A, Akar N, Bakkaloglu A, et al. Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa. J Pediatr. 2007;151:675-8 pubmed
    To test the hypothesis that alterations in the Mediterranean fever (MEFV) gene are a susceptibility factor for the development of polyarteritis nodosa (PAN) we investigated the prevalence of MEFV mutations in patients with PAN without ..
  49. Sari S, Egritas O, Dalgic B. The familial Mediterranean fever (MEFV) gene may be a modifier factor of inflammatory bowel disease in infancy. Eur J Pediatr. 2008;167:391-3 pubmed
    ..We report here the concurrent manifestation of IBD and familial Mediterranean fever (FMF) in three infants (less than 6 months of age) in whom infantile ulcerative colitis (UC) was associated ..
  50. Kinikli G, Bektas M, Misirlioglu M, Ates A, Turgay M, Tuncer S, et al. Relationship between HLA-DR, HLA-DQ alleles and MEFV gene mutations in familial Mediterranean fever (FMF) patients. Turk J Gastroenterol. 2005;16:143-6 pubmed
    ..M694V, and V726A) have been observed in over 80% of affected alleles in several ethnic groups of familial Mediterranean fever patients...
  51. Kirectepe A, Erdem G, Senturk N, Arisoy N, Hatemi G, Ozdogan H, et al. Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients. Int J Immunogenet. 2011;38:327-9 pubmed publisher
    A defect in MEFV gene expression regulation has been implicated in familial Mediterranean fever (FMF) etiopathophysiology...
  52. Kogan A, Shinar Y, Lidar M, Revivo A, Langevitz P, Padeh S, et al. Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet. 2001;102:272-6 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent attacks of fever and inflammation of serosal membranes and gradual development of nephropathic amyloidosis...
  53. Cazeneuve C, Hovannesyan Z, Genevieve D, Hayrapetyan H, Papin S, Girodon Boulandet E, et al. Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum. 2003;48:2324-31 pubmed
    Familial Mediterranean fever (FMF) is an autosomal-recessive disorder that is common in Armenian, Turkish, Arab, and Sephardic Jewish populations...
  54. Al Alami J, Tayeh M, Najib D, Abu Rubaiha Z, Majeed H, Al Khateeb M, et al. Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. Saudi Med J. 2003;24:1055-9 pubmed
    Familial Mediterranean Fever (FMF) is an autoinflammatory periodic disorder characterized by febrile and painful attacks due to inflammation involving the serosal membranes...
  55. Ibrahim G, Khalil F, Mostafa F, Fawzy M, Said M, Omar A, et al. Analysis of common MEFV mutations in Egyptian patients with familial Mediterranean fever: molecular characterisation of the disease. Br J Biomed Sci. 2010;67:202-7 pubmed
    Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder transmitted as an autosomal recessive trait...
  56. Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat. 2003;22:339-40 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis, common in populations of Armenian, Arab, Sephardic Jewish and Turkish origin...
  57. Booty M, Chae J, Masters S, Remmers E, Barham B, Le J, et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit?. Arthritis Rheum. 2009;60:1851-61 pubmed publisher
    Familial Mediterranean fever (FMF) has traditionally been considered an autosomal-recessive disease; however, it has been observed that a substantial number of patients with clinical FMF possess only 1 demonstrable MEFV mutation...
  58. . Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997;90:797-807 pubmed
    Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by dramatic episodes of fever and serosal inflammation...
  59. Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, et al. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet. 2001;9:553-5 pubmed
    Familial Mediterranean Fever (FMF) is a recessive disorder characterised by episodes of fever and neutrophil-mediated serozal inflammation. The FMF gene (MEFV) was recently identified and four common mutations characterised...
  60. Booth D, Lachmann H, Gillmore J, Booth S, Hawkins P. Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. QJM. 2001;94:527-31 pubmed
    Familial Mediterranean fever (FMF) is caused by more than 25 mutations in the gene MEFV, which encodes pyrin (marenostrin), a protein implicated in the regulation of neutrophil activity...
  61. Sahin F, Yilmaz Z, Yurtcu E, Baskin E. Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF. Genet Test. 2008;12:171-4 pubmed publisher
    Familial Mediterranean fever (FMF) is characterized by recurrent fever, serositis, and arthritis. Due to the abundance of mutations and clinical heterogeneity of the disease, different screening methods have been developed...
  62. Yu J, Wu J, Zhang Z, Datta P, Ibrahimi I, Taniguchi S, et al. Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ. 2006;13:236-49 pubmed
    Mutations in cryopyrin and pyrin proteins are responsible for several autoinflammatory disorders in humans, suggesting that these proteins play important roles in regulating inflammation...
  63. Dusunsel R, Dursun I, Gunduz Z, Poyrazoglu M, Gurgoze M, Dundar M. Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population. Pediatr Int. 2008;50:208-12 pubmed publisher
    ..The aim of the present study was not only to review clinical and demographic features of child-onset familial Mediterranean fever (FMF) patients but also to investigate whether there is a phenotype-genotype correlation in the same ..
  64. Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, et al. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients. Arthritis Rheum. 2005;52:3603-5 pubmed
    Familial Mediterranean fever (FMF) is an autosomal-recessive disorder characterized by recurrent attacks of fever, with abdominal, thoracic, or articular pain...
  65. Kalyoncu M, Acar B, Cakar N, Bakkaloglu A, Ozturk S, Dereli E, et al. Are carriers for MEFV mutations "healthy"?. Clin Exp Rheumatol. 2006;24:S120-2 pubmed
    ..A questionnaire was designed to be applied to parents of children with FMF and a control group of parents...
  66. Giaglis S, Papadopoulos V, Kambas K, Doumas M, Tsironidou V, Rafail S, et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet. 2007;71:458-67 pubmed
    Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting bouts of fever and serositis and caused by altered pyrin due to mutated MEFV gene...
  67. Centola M, Aksentijevich I, Kastner D. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet. 1998;7:1581-8 pubmed
    ..Familial Mediterranean fever (FMF) and the hyperimmunoglobulinemia D and periodic fever syndrome are both recessively inherited, while ..
  68. Yu J, Fernandes Alnemri T, Datta P, Wu J, Juliana C, Solorzano L, et al. Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol Cell. 2007;28:214-27 pubmed
    ..Here, we demonstrate that PSTPIP1 requires the familial Mediterranean fever protein pyrin to assemble the ASC pyroptosome, a molecular platform that recruits and activates caspase-1...
  69. Touitou I, Sarkisian T, Medlej Hashim M, Tunca M, Livneh A, Cattan D, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007;56:1706-12 pubmed
    Familial Mediterranean fever (FMF), the prototype of autoinflammatory disorders, is caused by recessive mutations in the MEFV gene. Some FMF patients develop renal amyloidosis, a potentially fatal condition...
  70. Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae J, et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet. 1999;64:949-62 pubmed
    Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified...
  71. Giaglis S, Mimidis K, Papadopoulos V, Thomopoulos K, Sidiropoulos P, Rafail S, et al. Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect?. Dig Dis Sci. 2006;51:687-92 pubmed
    The MEFV gene, responsible for familial Mediterranean fever (FMF), is involved in inflammatory reactions through altered leukocyte apoptosis, secretion of interleukin (IL)-1beta, and activation of the NF-kappa B pathway...
  72. Ryan J, Masters S, Booty M, Habal N, Alexander J, Barham B, et al. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein. Ann Rheum Dis. 2010;69:1383-8 pubmed publisher
    Familial Mediterranean fever (FMF) is caused by mutations in MEFV, which encodes pyrin. The nature of substitutions P369S and R408Q in exon 3 remains unclear...
  73. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005;84:1-11 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disease that is prevalent among eastern Mediterranean populations, mainly non-Ashkenazi Jews, Armenians, Turks, and Arabs...
  74. el Garf A, Salah S, Iskander I, Salah H, Amin S. MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations. Rheumatol Int. 2010;30:1293-8 pubmed publisher
    The objective of the study is to screen 12 MEFV gene mutations in Egyptian patients with familial Mediterranean fever (FMF) and to study the initial hypothesis that the phenotypic expression of the disease may be attributable to the ..
  75. Grandemange S, Soler S, Touitou I. Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay. Hum Mol Genet. 2009;18:4746-55 pubmed publisher
    Mutations in the MEditerranean FeVer (MEFV) gene are responsible for familial Mediterranean fever (FMF), a recessively inherited auto-inflammatory disease...
  76. Dundar M, Emirogullari E, Kiraz A, Taheri S, Baskol M. Common Familial Mediterranean Fever gene mutations in a Turkish cohort. Mol Biol Rep. 2011;38:5065-9 pubmed publisher
    Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder with the responsible gene of MEFV which primarily affects Jewish, Armenian, Turkish and Arab populations...
  77. Federici S, Calcagno G, Finetti M, Gallizzi R, Meini A, Vitale A, et al. Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population. Ann Rheum Dis. 2012;71:1961-5 pubmed publisher
    ..The frequency of 'familial Mediterranean fever (FMF)-like symptoms' decreases from patients carrying two high penetrance mutations towards patients with a ..
  78. Tidow N, Chen X, Muller C, Kawano S, Gombart A, Fischel Ghodsian N, et al. Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Blood. 2000;95:1451-5 pubmed
    Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by recurrent, self-limited attacks of fever and serositis and by infiltration of affected tissues by large numbers of neutrophils...
  79. Aldea A, Campistol J, Arostegui J, Rius J, Maso M, Vives J, et al. A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated per. Am J Med Genet A. 2004;124A:67-73 pubmed
    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring short attacks of fever and serositis. Secondary AA amyloidosis is the worst complication of the disease and often determines the prognosis...