Role of the R92Q TNFRSF1A mutation in patients with familial mediterranean fever

Arthritis Care and Research

Volumn 62, Issue 9, 2010, Pages 1294-1298

  Marek Yagel, Dina ^a,b   Berkun, Yackov ^a,b   Padeh, Shai ^a,b   Lidar, Merav ^a,b   Shinar, Yael ^a,b   Bar Joseph, Ifat ^a,b   Reznik Wolf, Haike ^a,b   Langevitz, Pnina ^a,b   Livneh, Avi ^a,b   Pras, Elon ^a,b  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COLCHICINE; GENE PRODUCT; PROTEIN TNFRSF1A; UNCLASSIFIED DRUG; TUMOR NECROSIS FACTOR RECEPTOR 1;

AMYLOIDOSIS; ARTICLE; CONTROLLED STUDY; FAMILIAL MEDITERRANEAN FEVER; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; ADOLESCENT; ADULT; CASE CONTROL STUDY; CLASSIFICATION; COMPARATIVE STUDY; ETHNOLOGY; FEMALE; GENETICS; MALE; MUTATION; REFERENCE VALUE;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; FAMILIAL MEDITERRANEAN FEVER; FEMALE; HUMANS; MALE; MUTATION; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; REFERENCE VALUES;

EID: 77956399617     PISSN: 21514658     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/acr.20213     Document Type: Article

References (36)

1. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med 1967;43:227-53.
2. Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, et al. Familial Mediterranean fever at the millennium: clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore) 1998;77:268-97. (Pubitemid 28376140)
3. Zemer D, Revach M, Pras M, Modan B, Schor S, Sohar E, et al. A controlled trial of colchicine in preventing attacks of familial Mediterranean fever. N Engl J Med 1974;291:932-4.
4. Pras M, Kastner DL. Familial Mediterranean fever. In: Klippel JH, Dieppe PA, editors. Rheumatology. 2nd ed. London: Mosby; 1997. p. 23.1-4.
5. 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.
6. Ozer FL, Kaplaman E, Zileli S. Familial Mediterranean fever in Turkey: a report of twenty cases. Am J Med 1971;50:336-9.
7. Barakat MH, Karnik AM, Majeed HW, el-Sobki NI, Fenech FF. Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs: a study of 175 patients and review of the literature. Q J Med 1986;233:837-47.
8. Rogers DB, Shohat M, Petersen GM, Bickal J, Congleton J, Schwabe AD, et al. Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am J Med Genet 1989;34:168-72. (Pubitemid 19257629)
9. The International 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.
10. The French International FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
11. Chae JJ, Komarow HD, Cheng J, Wood G, Raben N, Liu PP, et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003;11:591-604.
12. Papin S, Cuenin S, Agostini L, Martinon F, Werner S, Beer HD, et al. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1 processing. Cell Death Differ 2007;14:1457-66.
13. Seshadri S, Duncan MD, Hart JM, Gavrilin MA, Wewers MD. Pyrin levels in human monocytes and monocyte-derived macrophages regulate IL-1 processing and release. J Immunol 2007;179:1274-81.
14. Stehlik C, Fiorentino L, Dorfleutner A, Bruey JM, Ariza EM, Sagara J, et al. The PAAD/PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor κB activation pathways. J Exp Med 2002;196:1605-15.
15. Delpech M, Grateau G. Genetically determined recurrent fevers. Curr Opin Immunol 2001;13:539-42.
16. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97:133-44.
17. Hull KM, Shoham N, Chae JJ, Aksentijevich I, Kastner DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol 2003;15:61-9. (Pubitemid 36021025)
18. Granel B, Serratrice J, Dode C, Grateau G, Disdier P, Weiller PJ. Overlap syndrome between FMF and TRAPS in a patient carrying MEFV and TNFRSF1A mutations. Clin Exp Rheumatol 2007;4:S93-5.
19. Cantarini L, Baldari CT, Rossi Paccani S, Lucherini OM, Laghi Pasini F, Galeazzi M. Saturday night fever: bizarre recurrence of fever attacks in a patient carrying a mutation in both the MEFV and TNFRSF1A genes [letter]. Clin Exp Rheumatol 2008;26:S128-9.
20. Lidar M, Scherrmann JM, Shinar Y, Chetrit A, Niel E, Gershoni-Baruch R, et al. Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization. Semin Arthritis Rheum 2004;33:273-82.
21. 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.
22. 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.
23. Yagel-Marek M, Berkun Y, Bar-Joseph I, Pras E. Is E148Q a benign polymorphism or a disease causing mutation? [letter]. J Rheumatol 2009;36:2372.
24. Amoura Z, Dode C, Hue S, Caillat-Zucman S, Bahram S, Delpech M, et al. Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease. Arthritis Rheum 2005;52:608-11.
25. Kumpfel T, Hoffmann LA, Pellkofer H, Pollmann W, Feneberg W, Hohlfeld R, et al. Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases. Neurology 2008;71:1812-20.
26. Poirier O, Nicaud V, Gariepy J, Courbon D, Elbaz A, Morrison C, et al. Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness: the ECTIM, AXA, EVA and GENIC Studies. Eur J Hum Genet 2004;12:213-9.
27. 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.
28. Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM, et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum 2009;60:1851-61.
29. Kone-Paut I, Hentgen V, Guillaume-Czitrom S, Compeyrot-Lacassagne S, Tran TA, Touitou I. The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology (Oxford) 2009;48:840-2.
30. Lidar M, Livneh A. Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 2007;65:318-24. (Pubitemid 350011355)
31. Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al, for the International Study Group for Phenotype-Genotype Correlation in Familial Mediterranean Fever. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum 2007;56:1706-12.
32. Aganna E, Hawkins PN, Ozen S, Pettersson T, Bybee A, McKee SA, et al. Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. Genes Immun 2004;5:289-93.
33. Dode C, Hazenberg BP, Pecheux C, Cattan D, Moulin B, Barthelemy A, et al. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol Dial Transplant 2002;17:1212-7.
34. Hoffmann F, Lohse P, Stojanov S, Shin YS, Renner ED, Kery A, et al. Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation. J Hum Genet 2005;13:510-2.
35. Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner ED, Zellerer S, et al. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Arthritis Rheum 2004;50:1951-8.
36. Singh-Grewal D, Chaitow J, Aksentijevich I, Christodoulou J. Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness [letter]. Ann Rheum Dis 2007;66:1541. (Pubitemid 350032668)