The impact of MEFV gene identification on FMF: An appraisal after15 years

Clinical and Experimental Rheumatology

Volumn 30, Issue SUPPL.72, 2012, Pages

  Ben Chetrit, Eldad ^a   Touitou, Isabelle ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

Familial Mediterranean fever; MEFV gene

Indexed keywords

AUTOANTIBODY; COLCHICINE; INTERLEUKIN 1 ANTIBODY; INTERLEUKIN 1BETA; INTERLEUKIN 1BETA CONVERTING ENZYME; CYTOSKELETON PROTEIN; MARENOSTRIN;

AMYLOIDOSIS; ANTIBODY PRODUCTION; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; CYTOKINE PRODUCTION; DISEASE SEVERITY; DNA POLYMORPHISM; DRUG CHOICE; EDITORIAL; FAMILIAL MEDITERRANEAN FEVER; GENE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; MEFV GENE; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; SAA GENE; T LYMPHOCYTE ACTIVATION; ANIMAL; GENETIC PREDISPOSITION; GENETICS; HISTORY; MEDICAL RESEARCH; MUTATION; REVIEW; SEVERITY OF ILLNESS INDEX; TIME;

ANIMALS; BIOMEDICAL RESEARCH; CYTOSKELETAL PROTEINS; FAMILIAL MEDITERRANEAN FEVER; GENETIC PREDISPOSITION TO DISEASE; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; HUMANS; MUTATION; PHENOTYPE; PROGNOSIS; SEVERITY OF ILLNESS INDEX; TIME FACTORS;

EID: 84873269487     PISSN: 0392856X     EISSN: 1593098X     Source Type: Journal    
DOI: None     Document Type: Editorial

References (34)

1. Ben-chetrit E, Levy M Familial Medi-terranean fever (eecurrent polyserositis) A seminar. Lancet 1998; 351: 659-64.
2. Siegal S Benign paroxysmal peritonitis. Ann Intern Med 1945; 23: l-21.
3. Reimann HA Periodic disease; a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia. J Am Med Assoc 1948; 136: 239-44.
4. Heller H, Sohar E, Sherf L Familial Mediterranean fever. AMA Arch Intern Med 1958; 102: 50-71.
5. The french consortium: A candidate gene for familial Mediterranean fever. Nature Genet 1997; 17: 25-32.
6. FMF Consortium: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90: 797-807.
7. Chae JJ, Aksentijevich I, Kastner DL Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. Br J Haematol 2009; 146: 467-78.
8. De Vries A, Danon D, Nelken D, Henig E Red cellabnormality and autoimmune antibody in periodic disease. Harefuah 1957; 52: l-4.
9. Ben-Chetrit E, Levy M Autoantibodies in familial Mediterranean fever (FMF) (recurrent polyserositis). Br J Rheumatol 1990; 29: 459-61.
10. Jacobs JC Etiocholanolone Fever: Report of a case in childhood with periodic peritonitis associated with elevated serum etiocholanolone pediatrics 1964; 33: 284
11. George JM, Wolff SM, Diller E et a.l Re-current fever of unknown etiology: Failure to demonstrate association between fever and plasma unconjugated etiocholanolone. J Clin Invest 1969; 48: 558-63.
12. Barakat MH, Gumaa ka, El-Khawad Ao, El-Sobki N, Fenech FF Metaraminol pro-vocative test: a specific diagnostic test for familial Mediterranean fever. Lancet 1984; 323: 656-7.
13. Ben-Chetrit E, Gutman A, Levy M Dopamine-beta-hydroxylase activity in familial Mediterranean fever. Lancet 1990; 335: 8682.
14. Matzner Y, Ayesh SK, Hochner-CelnIker D, Ackerman Z, Ferne M Proposed mechanism of the inflammatory attacks in familial Mediterranean fever. Arch Intern Med 1990; 150: 1289-91.
15. Aksentijevich I, Kastner DL Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol 2011; 7: 469-78.
16. Manji GA, Wang L, Geddes BJ et al. PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B. J Biol Chem 2002; 277: 11570-5.
17. Chae JJ, Wood G, Richard K 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.
18. Chae JJ, Wood G, Masters SL et al. The B30.2 domain of pyrin,the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1betaproduction. Proc Natl Acad Sci USA 2006; 103: 9982-7.
19. Schroder K, Tschopp J The inflammas-omes. Cell 2010; 140: 821-32.
20. Touitou I, Lesage S, Mcdermott M et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004; 24: 194-8.
21. Sohar E, Gafni J, Heller H, Pras M Fa-milial Mediterranean fever. A survey of 470 cases, and review of the literature. Am J Med 1967; 43: 227-52.
22. Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M Dominant inheritance in two families with familial Mediterranean fever (FMF). Am J Med Genet 1995; 57: 455-7.
23. Booth DR, Gillmore JD, Lachmann HJ et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 2000; 93: 217-21.
24. Booty MG, Chae JJ, Masters SL et al. Familial Mediterranean Fever with a single MEFV mutation: Where is the second hit? Arthritis Rheum 2009; 60: 1851-61.
25. Marek-Yagel D, Berkun Y, Padeh S et al. Clinical disease among patients heterozygous for familial mediterranean fever. Arthritis Rheum 2009; 28; 60: 1862-6.
26. Ben-Chetrit E, Peleg H, Aamar S, Hey-Man NS The spectrum of MEFV clinical presentations is it familial Mediterranean fever only Rheumatology 2009; 48: 1455-9
27. Pras M, Bronspigel N, Zemer D, Gafni J Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. John Hopkins Med J 1982; 150: 22-5.
28. Dewalle M, Domingo C, Rozenbaum M et al. Phenotype Genotype correlation in Jewish patients suffering from familial Mediterranean fever. Eur J Hum Genet 1998; 6: 95-7.
29. Schwabe AD, Peters RS Familial Mediterranean fever in Armenians. Analysis of 100 cases. Medicine 1974; 53: 453-62.
30. Ozen S, Aktay N, Lainka E, Duzova A, Bakkaloglu A, Kallinich T Disease study to explore environmental effects on a monogenic disease Ann Rheum Dis 2009; 68: 246-8
31. Cattan R, Mamou H 14 cas de Maladie periodique de dont 8 compliques de nephropathies. Semaine Hop Paris 1952; 28: 106270.
32. Blum A, Gafni J, Sohar E, Shibolet S, Heller H Amyloidosis as the sole manifestation of familial Mediterranean fever (FMF). Further evidence of its genetic nature. Ann Intern Med 1962; 57: 795-9.
33. Touitou I, Sarkisian T, Mansour I et al. FOR THE INTERNATIONAL STUDY GROUP FOR PHENOTYPE-GENOTYPE CORRELATION IN FMF: Country as the primary risk factor for renal amyloidosis in Familial Mediterranean fever (FMF). Arthritis Rheum 2007; 56: 1706-12.
34. Aral O, Ozdogan H, Yazici H The other physician behind the use of colchicine for the treatment of familial Mediterranean fever. Clin Exp Rheumatol 2001; 19 (Suppl. 24): S13-S14.