Familial Mediterranean fever at the millennium clinical spectrum, ancient mutations, and a survey of 100 American referrals to the national institutes of health

Medicine

Volumn 77, Issue 4, 1998, Pages 268-297

  Samuels, Jonathan ^a   Aksentijevich, Ivona ^a   Torosyan, Yelizaveta ^a   Centola, Michael ^a   Deng, Zuoming ^a   Sood, Raman ^a   Kastner, Daniel L ^a  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; COLCHICINE; GENE PRODUCT; MARENOSTRIN; PYRINE; UNCLASSIFIED DRUG;

CLINICAL FEATURE; ETHNIC GROUP; FAMILIAL MEDITERRANEAN FEVER; GENETICS; GENOTYPE; HUMAN; INTRAVENOUS DRUG ADMINISTRATION; MAJOR CLINICAL STUDY; MALE INFERTILITY; MOLECULAR CLONING; MUTATION; MYOPATHY; ORAL DRUG ADMINISTRATION; PATHOPHYSIOLOGY; PATIENT REFERRAL; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ADULT; AMINO ACIDS; AMYLOIDOSIS; CHILD, PRESCHOOL; CLONING, MOLECULAR; COLCHICINE; DIAGNOSIS, DIFFERENTIAL; DNA, COMPLEMENTARY; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENOTYPE; GOUT SUPPRESSANTS; HAPLOTYPES; HEALTH SURVEYS; HUMANS; KIDNEY DISEASES; MALE; MIDDLE AGED; NATIONAL INSTITUTES OF HEALTH (U.S.); POINT MUTATION; REFERRAL AND CONSULTATION; SEVERITY OF ILLNESS INDEX; UNITED STATES;

EID: 0031814513     PISSN: 00257974     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005792-199807000-00005     Document Type: Review

References (168)

1. Aivasian AA, Savgorodniaia AM, Abramian MK, Pashinian CA, Bagdassarian GB, Guyumjian IO, Ovsepian LA. Immunogenesis of periodic disease. Klin Med (Mosk) 55: 41-97, 1977.
2. Akarsu AN, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M. Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. J Med Genet 34: 573-78, 1997.
3. Aksentijevich I, Pras E, Gruberg L, Shen Y, Holman K, Helling S, Prosen L, Sutherland GR, Richards RI, Dean M, Pras M, Kastner DL. Familial Mediterranean fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extended haplotype analysis. Am J Hum Genet 53: 644-51, 1993.
4. Aksentijevich I, Pras E, Gruberg L, Shen Y, Holman K, Helling S, Prosen L, Sutherland GR, Richards RI, Ramsburg M, Dean M, Pras M, Amos CI, Kastner DL. Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies. Am J Hum Genet 53: 451-61, 1993.
5. Anton PA, Targan SR, Vigna SR, Durham M, Schwabe AD, Shanahan F. Enhanced neutrophil chemiluminescence in familial Mediterranean fever. J Clin Immunol 8: 148-56, 1988.
6. Armenian HK. Genetic and environmental factors in the aetiology of familial paroxysmal polyserositis. An analysis of 150 cases from Lebanon. Trop Geogr Med 34: 183-87, 1982.
7. Ayesh SK, Azar Y, Barghouti II, Ruedi JM, Babior BM, Matzner Y. Purification and characterization of a C5a-inactivating enzyme from human peritoneal fluid. Blood 85: 3503-9, 1995.
8. Azizi E, Fischer BK. Cutaneous manifestations of familial Mediterranean fever. Arch Dermatol 112: 364-66, 1976.
9. Babior BM, Matzner Y. The familial Mediterranean fever gene - cloned at last. N Engl J Med 337: 1548-49, 1997.
10. Bahna SL, Heiner DC, Myhre BA. Changes in serum IgD in cigarette smokers. Clin Exp Immunol 51: 624-30, 1983.
11. Balow JE Jr, Shelton DA, Orsborn A, Mangelsdorf M, Aksentijevich I, Blake T, Sood R, Gardner D, Liu R, Pras E, Levy E, Centola M, Deng Z, Zaks N, Wood G, Chen X, Richards N, Shohat M, Livneh A, Pras M, Doggett NA, Collins FS, Liu PP, Rotter JI, Fischel-Ghodsian N, Gumicio D, Richards RI, Kastner DL. A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups. Genomics 44: 280-91, 1997.
12. Bar-Eli M, Territo MC, Peters RS, Schwabe AD. A neutrophil lysozyme leak in patients with familial Mediterranean fever. Am J Hematol 11: 387-95, 1981.
13. Bar-Eli M, Wilson L, Peters RS, Schwabe AD, Territo MC. Microtubules in PMNs from patients with familial Mediterranean fever. Am J Med Sci 284: 2-7, 1982.
14. Barakat MH, El-Khawad AO, Gumaa KA, El-Sobki NI, Fenech FF. Metaraminol provocative test: A specific diagnostic test for familial Mediterranean fever. Lancet 1: 656-57, 1984.
15. Barakat MH, Gumaa KA, Malhas LN, el-Sobki NI, Moussa MA, Fenech FF. Plasma dopamine beta-hydroxylase: Rapid diagnostic test for recurrent hereditary polyserositis. Lancet 2: 1280-83, 1988.
16. 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 60: 837-47, 1986.
17. Barakat MH, Malhas LN, Gumaa KK. Catecholamine metabolism in recurrent hereditary polyserositis. Pathogenesis of acute inflammation: The retention-leakage hypothesis. Biomed Pharmacother 43: 763-69, 1989.
18. Barakat MH, Mustafa HT, Shakir RA. Mollaret's meningitis. A variant of recurrent hereditary polyserositis, both provoked by metaraminol. Arch Neurol 45: 926-27, 1988.
19. Bellini M, Lacroix JC, Gall JG. A putative zinc-binding protein on lampbrush chromosome loops. EMBO J 12: 107-14, 1993.
20. Ben-Chetrit E, Gutman A. Levy M. Dopamine-β-hydroxylase activity in familial Mediterranean fever. Lancet 1: 176, 1990.
21. Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 351: 659-64, 1998.
22. Ben-Chetrit E, Scherrmann JM, Levy M. Colchicine in breast milk of patients with familial Mediterranean fever. Arthritis Rheum 39: 1213-17, 1996.
23. Bergman F, Warmenius S. Familial perireticular amyloidosis in a Swedish family. Am J Med 45: 601-6, 1968.
24. Blum A, Sohar E. The diagnosis of amyloidosis. Ancillary procedures. Lancet 1: 721-24, 1962.
25. Brauman A, Gilboa Y. Recurrent pulmonary atelectasis as a manifestation of familial Mediterranean fever. Arch Intern Med 147: 378-79, 1987.
26. Brenner-Ullman A, Melzer-Ofir H, Daniels M, Shohat M. Possible protection against asthma in heterozygotes for familial Mediterranean fever. Am J Med Genet 53: 172-75, 1994.
27. Brodey PA, Wolff SM. Radiographic changes in the sacroiliac joints in familial Mediterranean fever. Radiology 114: 331-33, 1975.
28. Buades J, Bassa A, Altés J, Vicens JM, Cabrer B. The metaraminol test and adverse cardiac effects. Ann Intern Med 111: 259-60, 1989.
29. Ciftci AO, Tanyel FC, Buyukpamukcu N, Hicsonmez A. Adhesive small bowel obstruction caused by familial Mediterranean fever: The incidence and outcome. J Pediatr Surg 30: 577-79, 1995.
30. Courillon-mallet A, Cauet N, Dervichian M, Launay JM, Cattan D. Plasma dopamine beta-hydroxylase activity in familial Mediterranean fever. Isr J Med Sci 28: 427-29, 1992.
31. Dabestani A, Noble LM, Child JS, Krivokapich J, Schwabe AD. Pericardial disease in familial Mediterranean fever: An echocardiographic study. Chest 81: 592-95, 1982.
32. Dahl CA, Schall RP, He HL, Cairns JS. Identification of a novel gene expressed in activated natural killer cells and T cells. J Immunol 148: 597-603, 1902.
33. Daniels M, Shohat T, Brenner-Ullman A, Shohat M. Familial Mediterranean fever: High gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. Am J Med Genet 55: 311-14, 1995.
34. Desnick RJ. The porphyrias. In: Isselbacher KJ, ed. Harrison's principles of internal medicine. 13th ed. New York: McGraw Hill, pp 2073-79, 1994.
35. Dewalle M, Domingo C, Rozenbaum M, Ben-Chetrit E, Cattan D, Bernot A, Dross C, Dupont M, Notarnicola C, Levy M, Rosner I, Demaille J, Touitou I. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet 6: 95-97, 1998.
36. Dinarello CA, Chusid MJ, Fauci AS, Gallin JI, Dale DC, Wolff SM. Effect of prophylactic colchicine therapy on leukocyte function in patients with familial Mediterranean fever. Arthritis Rheum 19: 618-22, 1976.
37. Dinarello CA, Wolff SM, Goldfinger SE, Dale DC, Ailing DW. Colchicine therapy for familial Mediterranean fever. A double-blind trial. N Engl J Med 291: 934-37, 1974.
38. Drenth JP, Haagsma CJ, van der Meer JW, International Hyper-IgD Study Group. Hyperimmunoglobulinemia D and periodic fever syndrome: The clinical spectrum in a series of 50 patients. Medicine (Baltimore). 73: 133-14, 1994.
39. Ehrenfeld EN, Eliakim M, Rachmilewitz M. Recurrent polyserositis (familial Mediterranean fever, periodic disease). A report of fifty-five cases. Am J Med 31: 107-23, 1961.
40. Ehrenfeld M, Brzezinski A, Levy M, Eliakim M. Fertility and obstetric history in patients with familial Mediterranean fever on long-term colchicine therapy. Br J Obstet Gynaecol 94: 1186-91, 1987.
41. Ehrenfeld M, Levy M, Margalioth EJ, Eliakim M. The effects of long-term colchicine therapy on male fertility in patients with familial Mediterranean fever. Andrologia 18: 420-26, 1986.
42. Ehrenfeld M, Pras M, Shoenfeld Y. Is familial Mediterranean fever an autoimmune disease or an immune mediated condition? In: Sohar E, Gafni J, Pras M, eds. Proceedings of the 1st International Conference on FMF (Jerusalem, 1997). Tel Aviv: Freund, pp 267-74, 1997.
43. Eisenberg S, Urieli-Shoval S, Azar Y, Centola M, Deng Z, Kastner DL. Matzner Y. C5a inhibitor and pyrin/marenostrin: Possible relationship. In: Sohar E, Gafni J, Pras M, eds. Proceedings of the 1st International Conference on FMF (Jerusalem, 1997). Tel Aviv: Freund, pp 275-78, 1997.
44. Eliakim M, Levy M, Ehrenfeld M. Laboratory examinations. In: Recurrent polyserositis (familial Mediterranean fever, periodic disease). Amsterdam: Elsevier North Holland, pp 87-95, 1981.
45. Eliakim M, Rachmilewitz M, Rosemann E, Niv A. Renal manifestations in recurrent polyserositis (familial Mediterranean fever). Isr J Med Sci 6: 228-45, 1970.
46. Eshel G, Vinograd I, Barr J, Zemer D. Acute scrotal pain complicating familial Mediterranean fever in children. Br J Surg 81: 894-96, 1994.
47. Fischel-Ghodsian N, Bu X, Prezant TR, Oeztas S, Huang ZS, Bohlman MC, Rotter JI, Shohat M. Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13. Am J Med Genet 46: 689-93, 1993.
48. Fradkin A, Yahav J, Zemer D, Jonas A. Colchicine-induced lactose malabsorption in patients with familial Mediterranean fever. Isr J Med Sci 31: 616-20, 1995.
49. French FMF Consortium. Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. Am J Hum Genet 59: 603-12, 1996.
50. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nature Genet 17: 25-31, 1997.
51. Garcia-Gonzalez A, Weisman MH. The arthritis of familial Mediterranean fever. Semin Arthritis Rheum 22: 139-50, 1992.
52. Gedalia A, Adar A, Gorodischer R. Familial Mediterranean fever in children. J Rheumatol (Suppl) 35: 1-9, 1992.
53. Gedalia A, Zamir S. Neurologic manifestations of familial Mediterranean fever. Pediatr Neurol 9: 301-2, 1993.
54. Gertz MA, Pettitt RM, Perrault J, Kyle RA. Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis. Mayo Clin Proc 62: 1095-1100, 1987.
55. Ghadessy FJ, Chen D, Kini RM, Chung MCM, Jeyaseelan K, Khoo HE, Yuen R. Stonustoxin is a novel lethal factor from stonefish (Synaceja horrida) venom. cDNA cloning and characterization. J Biol Chem 271: 25575-81, 1996.
56. Gigli I, Sheffer AL, Austen KF. Angioedema. In: Samter, M ed. Immunological diseases. 4th ed. Boston: Little Brown, pp 1205-20, 1988.
57. Glikson M, Galun E, Schlesinger M, Cohen D, Haskell L, Rubinow A, Eliakim M. Polyarteritis nodosa and familial Mediteranean fever: A report of 2 cases and review of the literature. J Rheumatol 16: 536-39, 1989.
58. Goldfinger SE. Colchicine for familial Mediterranean fever. New Engl J Med 287: 1302, 1972.
59. Goldstein RC, Schwabe AD. Prophylactic colchicine therapy for familial Mediterranean fever. A controlled, double-blind study. Ann Intern Med 81: 792-94, 1974.
60. Hart J, Lewin KJ, Peters RS, Schwabe AD. Effect of long-term colchicine therapy on jejunal mucosa. Dig Dis Sci 38: 2017-21, 1993.
61. Heller H, Gafhi J, Michaeli D, Shahin N, Sonar E, Ehrlich G, Karten I, Sokoloff L. The arthritis of familial Mediterranean fever (FMF). Arthritis Rheum 9: 1-17, 1966.
62. Heller H, Sohar E, Gafhi J, Heller J. Amyloidosis in familial Mediterranean fever. An independent genetically determined character. Arch Intern Med 107: 539-50, 1961.
63. Heller H, Sohar E, Sherf L. Familial Mediterranean fever. Arch Intern Med 102: 50-71, 1958.
64. Henry J, Ribouchon MT, Offer C, Pontarotti P. B30.2-like domain proteins: A growing family. Biochem Biophys Res Commun 235: 162-65, 1997.
65. Holmes A, Booth D, Hawkins P. Familial Mediterranean fever gene. N Engl J Med 338: 992-93, 1998.
66. International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90: 797-807, 1997.
67. Itoh K, Itoh Y, Frank MB. Protein heterogeneity in the human Ro/SSA ribonucleoproteins. The 52- and 60-kD Ro/SSA autoantigens are encoded by separate genes. J Clin Invest 87: 177-86, 1991.
68. Jack LJ, Mather IH. Cloning and molecular analysis of cDNA encoding bovine butyrophilin, an apical glycoprotein expressed in mammary tissue and secreted in association with the milk-fat globule membrane during lactation. J Biol Chem 265: 14481-86, 1990.
69. Janeway TC, Mosenthal HO. An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism. Trans Assoc Am Phys 23: 504-18, 1908.
70. Jialal I. A practical approach to the laboratory diagnosis of dyslipidemia. Am J Clin Pathol 106: 128-38, 1996.
71. Karenko L, Pettersson T, Roberts P. Autosomal dominant 'Mediterranean fever' in a Finnish family. J Intern Med 232: 365-69, 1992.
72. Kastner DL. Intermittent and periodic arthritic syndromes. In: Arthritis and allied conditions. Baltimore: Williams & Wilkins, pp 1279-1306, 1997.
73. Kavukcu S, Turkmen M, Eroglu Y, Canda T, Yorukoglu K, Igci E, Buyukgebiz A. Renal, gastric and thyroidal amyloidosis due to familial Mediterranean fever. Pediatr Nephrol 11: 210-12, 1997.
74. Kees S, Langevitz P, Zemer D, Padeh S, Pras M, Livneh A. Attacks of pericarditis as a manifestation of familial Mediterranean fever. Q J Med 90: 643-47, 1997.
75. Kuncl RW, Duncan G, Watson D, Alderson K, Rogawski MA, Peper M. Colchicine myopathy and neuropathy. N Engl J Med 316: 1562-68, 1987.
76. Lahm H, Wyniger J, Hertig S, Yilmaz A, Fischer JR, Givel JC, Odartchenko N. Secretion of bioactive granulocyte-macrophage colony-stimulating factor by human colorectal carcinoma cells. Cancer Res 54: 3700-2, 1994.
77. Langevitz P, Livneh A, Zemer D, Shemer J, Pras M. Seronegative spondyloarthropathy in familial Mediterranean fever. Semin Arthritis Rheum 27: 67-72, 1997.
78. Langevitz P, Zemer D, Livneh A, Shemer J, Pras M. Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol 21: 1708-9, 1994.
79. Lee WY, Tsai S, Kao JH, Lai MY. Taiwanese patient with recurrent polyserositis: Report of a case. J Formos Med Assoc 92: 1013-16, 1993.
80. Lehman TJ, Hanson V, Kornreich H, Peters RS, Schwabe AD. HLA-B27-negative sacroiliitis: A manifestation of familial Mediterranean fever in childhood. Pediatrics 61: 423-26, 1978.
81. Levy EN, Shen Y, Kupelian A, Kruglyak L, Aksentijevich I, Pras E, Balow JE Jr, Linzer B, Chen X, Shelton DA, Gumucio D, Pras M, Shohat M, Rotter JI, Fischel-Ghodsian N, Richards RI, Kastner DL. Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246. Am J Hum Genet 58: 523-34, 1996.
82. Livneh A, Drenth JP, Hasen IS, Langevitz P, Gorge J, Shelton DA, Gumucio DL, Pras E, Kastner DL, Pras M, van der Meer JW. Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: Two diseases with distinct clinical, serologic, and genetic features. J Rheumatol 24: 1558-63, 1997.
83. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40: 1879-85, 1997.
84. Livneh A, Madgar I, Langevitz P, Zemer D. Recurrent episodes of acute scrotum with ischemic testicular necrosis in a patient with familial Mediterranean fever. J Urol 151: 431-32, 1994.
85. Livneh A, Zemer D, Langevitz P, Laor A, Sohar E, Pras M. Colchicine treatment of AA amyloidosis of familial Mediterranean fever. An analysis of factors affecting outcome. Arthritis Rheum 37: 1804-11, 1994.
86. Livneh A, Zemer D, Siegal B, Laor A, Sohar E, Pras M. Colchicine prevents kidney transplant amyloidosis in familial Mediterranean fever. Nephron 60: 418-22, 1992.
87. Mache CJ, Goriup U, Fischel-Ghodsian N, Chen X, Schwingshandl J. Autosomal dominant familial Mediterranean fever-like syndrome. Eur J Pediatr 155: 787-90, 1996.
88. Majeed HA, Quabazard Z, Hijazi Z, Farwana S, Harshani F. The cutaneous manifestations in children with familial Mediterranean fever (recurrent hereditary polyserositis). A six-year study. Q J Med 75: 607-16, 1990.
89. Mamou H, Cattan R. La maladie périodique (sur cas personnels dont 8 compliqués de néphropathies). Sem Hop 28: 1062-70, 1952.
90. Matzner Y. Biologic and clinical advances in familial Mediterranean fever. Crit Rev Oncol Hematol 18: 197-205, 1995.
91. Matzner Y, Brzezinski A. C5a-inhibitor deficiency in peritoneal fluids from patients with familial Mediterranean fever. N Engl J Med 311: 287-90, 1984.
92. McDermott EM, Smillie DM, Powell RJ. Clinical spectrum of familial Hibernian fever: A 14-year follow-up study of the index case and extended family. Mayo Clin Proc 72: 806-17, 1997.
93. McDermott M, Ogunkolade BW, McDermott EM, Jones LC, Wan Y, Quane KA, McCarthy J, Phelan M, Molloy MG, Powell RI, Amos CI, Hitman GA. Linkage of familial Hibernian fever to chromosome 12p13. Am J Hum Genet 62: 1446-51, 1998.
94. 93a. McKusick VA. Mendelian inheritance in man: A catalog of human genes and genetic disorders. 12th ed. Baltimore: Johns Hopkins University Press, 1998.
95. Meyerhoff J. Familial Mediterranean fever: Report of a large family, review of the literature, and discussion of the frequency of amyloidosis. Medicine (Baltimore) 59: 66-77, 1980.
96. Miller JJ 3d, Emery HM. Migrating monopredominant arthritis in children of Assyrian ancestry. J Rheumatol 23: 178-80, 1996.
97. Moskovitz B, Bulkier M, Nativ O. Acute orchitis in recurrent polyserositis. J Pediatr Surg 30: 1517-18, 1995.
98. Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M. Gene localization for an autosomal dominant familial periodic fever to 12p13. Am J Hum Genet 62:884-89, 1998.
99. Ostuni P, Vertolli U, Marson P. Atypical hypergammaglobulinaemia D syndrome with amyloidosis: An overlap with familial Mediterranean fever? Clin Rheumatol 15: 610-12, 1996.
100. Ozdemir AI, Sokmen C. Familial Mediterranean fever among the Turkish people. Am J Gastroenterol 51:311-16, 1969.
101. Ozdogan H, Arisoy N, Kasapcapur O, Sever L, Caliskan S, Tuzuner N, Mat C, Yazici H. Vasculitis in familial Mediterranean fever. J Rheumatol 24: 323-27, 1997.
102. Ozer FL, Kaplaman E, Zileli S. Familial Mediterranean fever in Turkey. A report of twenty cases. Am J Med 50: 336-39, 1971.
103. Passiu G, Perpignano G, La Nasa G, Carcassi U. La febhre familiare mediterranea: Descrizione di un caso di nostra osservazione [Italian]. Minerva Medica 75: 1147-52, 1984.
104. Pras E, Aksentijevich I, Gruberg L, Balow JE Jr, Prosen L, Dean M, Steinberg AD, Pras M, Kastner DL. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 326: 1509-13, 1992.
105. Pras E, Aksentijevich I, Levy E, Gruberg L, Prosen L, Dean M, Pras M, Kastner DL. The gene causing familial Mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families. Hum Genet 94: 576-77, 1994.
106. Pras E, Langevitz P, Livneh A, Zemer D, Migdal A, Padeh S, Lubetzky A, Aksentijevich I, Centola M, Zaks N, Deng Z, Sood R, Kastner DL, Pras M. Genotype-phenotype correlation in familial Mediterranean fever: A preliminary report. In: Sohar E, Gafni J, Pras M, eds. Proceedings of the 1st International Conference on FMF (Jerusalem, 1997). Tel Aviv: Freund, pp 260-64, 1997.
107. Pras E, Livneh A, Balow JE Jr, Pras E, Kastner DL, Pras M, Langevitz P. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet 75: 216-19, 1998.
108. Pras M, Bronshpigel N, Zemer D, Gafni J. Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med J 150: 22-26, 1982.
109. Pras M, Kastner D. Familial Mediterranean fever. In: Klippel JH, Dieppe PA, eds. Rheumatology. London: Mosby. 5: 23.1-23.4, 1998.
110. Priest RJ, Nixon RK. Familial recurring polyserositis: A disease entity. Ann Intern Med 51: 1253-74, 1959.
111. Ptácek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67: 1021-27, 1991.
112. Putterman C, Ben-Chetrit E, Caraco Y, Levy M. Colchicine intoxication: Clinical pharmacology, risk factors, features and management. Semin Arthritis Rheum 21: 143-55, 1991.
113. Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW. Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genet 17: 285-91, 1997.
114. Rabinovitch O, Zemer D, Kukia E, Sohar E, Mashiach S. Colchicine treatment in conception and pregnancy: Two hundred thirty-one pregnancies in patients with familial Mediterranean fever. Am J Reprod Immunol 28: 245-46, 1992.
115. Reddy BA, Etkin LD, Freemont PS. A novel zinc finger coiled-coil domain in a family of nuclear proteins. Trends Biochem Sci 17: 344-45, 1992.
116. Reddy BA, Kloc M, Etkin L. The cloning and characterization of a maternally expressed novel zinc finger nuclear phosphoprotein (xnf7) in Xenopus laevis. Dev Biol 148: 107-16, 1991.
117. Reich CB, Franklin EC. Familial Mediterranean fever in an Italian family. Arch Intern Med 125: 337-40, 1970.
118. Reimann HA, Moadié J, Semerdjian S, Sahyoun PF. Periodic peritonitis - heredity and pathology. Report of seventy-two cases. JAMA 154: 1254-59, 1954.
119. Reissman P, Durst AL, Rivkind A, Szold A, Ben-Chetrit E. Elective laparoscopic appendectomy in patients with familial Mediterranean fever. World J Surg 18: 139-41, 1994.
120. Rivas AL, Tintle L, Kimball ES, Scarlett J, Quimby FW. A canine febrile disorder associated with elevated interleukin-6. Clin Immunol Immunopathol 64: 36-45, 1992.
121. Rivas AL, Tintle L, Meyers-Wallen V, Scarlett J, van Tassell C, Quimby F. Inheritance of renal amyloidosis in Chinese Shar-Pei dogs. J Hered 84: 438-42, 1993.
122. Rogers DB, Shohat M, Petersen GM, Bickal J, Congleton J, Schwabe AD, Rotter JI. Familial Mediterranean fever in Armenians: Autosomal recessive inheritance with high gene frequency. Am J Med Genet 34: 168-72, 1989.
123. Rozenbaum M, Katz R, Rozner I, Pollack S. Decreased interleukin 1 activity released from circulating monocytes of patients with familial Mediterranean fever during in vitro stimulation by lipopolysaccharide. J Rheumatol 19: 416-18, 1992.
124. Rozenbaum M, Marcovici O, Rosner I. Familial Mediterranean fever (FMF) in Druze of North Israel. In: Sohar E, Gafni J, Pras M, eds. Proceedings of the 1st International Conference on FMF (Jerusalem, 1997). Tel Aviv: Freund, pp 60-61, 1997.
125. Rozenbaum M, Rosner I. The clinical features of familial Mediterranean fever of elderly onset. Clin Exp Rheumatol 12: 347-18, 1994.
126. Saatci U, Ozen H, Ozdemir S, Bakkaloglu A, Besbas N, Topaloglu R, Arslan S. Familial Mediterranean fever in children: Keport of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 156: 619-23, 1997.
127. Said R, Hamzeh Y, Said S, Tarawneh M, al-Khateeb M. Spectrum of renal involvement in familial Mediterranean fever. Kidney Int 41: 414-19, 1992.
128. Salai M, Langevitz P, Blankstein A. Zemer D, Chechick A, Pras M. Horoszowski H. Total hip replacement in familial Mediterranean fever. Bull Hosp Joint Dis 53: 25-28, 1993.
129. Salai M, Zemer D, Segal E, Corat A, Heyman Z, Davidson B, Langevitz P, Livneh A. Chronic massive knee effusion in familial Mediterranean fever. Semin Arthritis Rheum 27: 169-72, 1997.
130. Schattner A, Lachmi M, Livneh A, Pras M, Hahn T. Tumor necrosis factor in familial Mediterranean fever. Am J Med 90: 434-38, 1991.
131. Schwabe AD, Monroe JB. Meningitis in familial Mediterranean fever. Am J Med 85: 715-17, 1988.
132. Schwabe AD, Peters RS. Familial Mediterranean fever in Armenians. Analysis of 100 cases. Medicine (Baltimore) 53: 453-62, 1974.
133. Schwartz J. Periodic peritonitis, onset simultaneously with menstruation. Ann Intern Med 53: 407-11, 1960.
134. Shohat M, Bu X, Shohat T, Fischel-Ghodsian N, Magal N, Nakamura Y, Schwabe AD, Schlezinger M, Danon Y, Rotter JI. The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: Evidence for locus homogeneity. Am J Hum Genet 51: 1349-54, 1992.
135. Shohat M, Korenberg JR, Schwabe AD, Rotter JI. Hypothesis: Familial Mediterranean fever - a genetic disorder of the lipocortin family? Am J Med Genet 34: 163-67, 1989.
136. Shohat M, Livneh A, Zemer D, Pras M, Sohar E. Twin studies in familial Mediterranean fever. Am J Med Genet 44: 179-82, 1992.
137. Siegal S. Benign paroxysmal peritonitis. Ann Intern Med 23: 1-21, 1945.
138. Simons RJ, Kingma DW. Fatal colchicine toxicity. Am J Med 86:356-57, 1989.
139. Sneh E, Pras M, Michaeli D, Shanin N, Gafni J. Protracted arthritis in familial Mediterranean fever. Rheumatol Rehabil 16: 102-6, 1977.
140. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 43: 227-53, 1967.
141. Sood R, Aksentijevich I, Altherr M, Apostolou S, Balow JE Jr, Blake T, Callen DF, Centola M, Chen X, Chen X, Collins FS, Doggert NA, Fischel-Ghodsian N, Gardner D, Gumucio D, Krizman DB, Kruglyak L, Levy E, Liu P, Marrone BL, Pras E, Pras M, Richards RI, Rotter JI, Shelton D, Shohat M, Wood G, Kastner DL. High-resolution physical map of the region spanning the MEF locus at 16p13. Cytogenet Cell Genet 72: 293, 1996.
142. Sood R, Blake T, Aksentyevich I, Wood G, Chen X, Gardner D, Shelton DA, Mangelsdorf M, Orsborn A, Pras E, Balow JE Jr, Centola M, Deng Z, Zaks N, Chen X, Richards N, Fischel-Ghodsian N, Rotter JI, Pras M, Shohat M, Deaven LL, Gumucio DL, Callen DF, Richards RI, Collins FS, Liu PP, Kastner DL, Doggett NA. Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p13.3. Genomics 42: 83-95, 1997.
143. Sukenik S, Horowitz J, Boehm R, Bar-Ziv J. Cervical spine involvement in familial mediterranean fever. J Rheumatol 12: 603-4, 1985.
144. Sungur C, Sungur A, Ruacan S, Arik N, Yasavul U, Turgan C, Caglar S. Diagnostic value of bone marrow biopsy in patients with renal disease secondary to familial Mediterranean fever. Kidney Int 44: 834-36, 1993.
145. Takahashi M, Ebe T, Kohara T, Inagaki M, Isonuma H, Hibiya I, Mori T, Watanabe K, Ikemoto H. Periodic fever compatible with familial Mediterranean fever. Intern Med 31: 893-98, 1992.
146. Takahashi M, Inaguma Y, Hiai H, Hirose F. Developmentally regulated expression of a human "finger"-containing gene encoded by the 5′ half of the ret transforming gene. Mol Cell Biol 8: 1853-56, 1988.
147. Territo MC, Peters RS, Cline MJ. Leukocyte function in familial Mediterranean fever. Am J Hematol 1: 307-11, 1976.
148. Tinaztepe K, Gucer S, Bakkaloglu A, Tinaztepe B. Familial Mediterranean fever and polyarteritis nodosa: Experience of five paediatric cases. A causal relationship or coincidence? Eur J Pediatr 156: 505-6, 1997.
149. Tishler M, Pras M, Yaron M. Abdominal fat tissue aspirate in amyloidosis of familial Mediterranean fever. Clin Exp Rheumatol 6: 395-97, 1988.
150. Tissot C, Mechti N. Molecular cloning of a new interferon-induced factor that represses human immunodeficiency virus type 1 long terminal repeat expression. J Biol Chem 270: 14891-98, 1995.
151. Touitou I, Ben-Chetrit E, Notarnicola C, Domingo C, Dewalle M, Dross C, Dupont M, Demaille J, Rosner I, Rozenbaum M. Familial Mediterranean fever (FMF) clinical and genetic features in Druzes and Iraqi-Jews: A preliminary study. J Rheumatol (in press), 1998.
152. Tunca M, Tankurt E, Akbaylar Akpinar H, Akar S, Hizli N, Gonen O. The efficacy of interferon alpha on colchicine-resistant familial Mediterranean fever attacks: A pilot study. Br J Rheumatol 36: 1005-8, 1997.
153. van der Meer JW, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S, van Furth R. Hyperimmunoglobulinaemia D and periodic fever: A new syndrome. Lancet 1: 1087-90, 1984.
154. Vernet C, Boretto J, Mattei MG, Takahashi M, Jack LJ, Mather IH, Rouquier S, Pontarotti P. Evolutionary study of multigenic families mapping close to the human MHC class I region. J Mol Evol 37: 600-12, 1993.
155. Wahib AA, el-Naggar MK, Montasser MF. Familial Mediterranean fever in Saudi Arabia. J Egypt Med Assoc 67(Suppl 3): 71-76, 1984.
156. Wallace SL, Singer JZ. Review: Systemic toxicity associated with the intravenous administration of colchicine - guidelines for use. J Rheumatol 15: 495-99, 1988.
157. Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw Hill, pp 3417-84, 1995.
158. Weinstock LB, Kothari T, Sharma RN, Rosenfeld SI. Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members. Gastroenterology 93: 1116-18, 1987.
159. Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial Hibernian fever. Q J Med 51: 469-80, 1982.
160. Wright DG, Wolff SM, Fauci AS, Alling DW. Efficacy of intermittent colchicine therapy in familial Mediterranean fever. Ann Intern Med 86: 162-65: 1977.
161. Yalçinkaya F, Akar N, Misirlioglu M. Familial Mediterranean fever -amyloidosis and the Val726Ala mutation. N Engl J Med 338: 993-94, 1998.
162. Yalçinkaya F, Tekin M, Tumer N, Ozkaya N. Protracted arthritis of familial Mediterranean fever (an unusual complication). Br J Rheum 36: 1228-30, 1997.
163. Yazici H, Ozdogan H. Familial Mediterranean fever in Turkey. In: Sohar E, Gafni J, Pras M, eds. Proceedings of the 1st International Conference on FMF (Jerusalem, 1997). Tel Aviv: Freund, pp 66-71, 1997.
164. 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 57: 455-57, 1995.
165. Zemer D, Livneh A, Danon YL, Pras M, Sohar E. Long-term colchicine treatment in children with familial Mediterranean fever. Arthritis Rheum 34: 973-77, 1991.
166. Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med 314: 1001-5, 1986.
167. Zemer D, Revach M, Pras M, Modan B, Schor S, Sohar E. A controlled trial of colchicine in preventing attacks of familial Mediterranean fever. N Engl J Med 291: 932-34, 1974.
168. Zimand S, Tauber T, Hegesch T, Aladjem M. Familial Mediterranean fever presenting with massive cardiac tamponade. Clin Exp Rheumatol 12: 67-69, 1994.