KALITSAL PERİYODİK ATEŞ SENDROMLARI

GİRİŞ

FMF SENDROMU
Ailesel Akdeniz Ateşi

TRAP SENDROMU
Tümör Nekroz Faktörü İle İlişkili Periyodik Sendrom

HID SENDROMU
Hiperimmünglobülinemi D Sendromu

PFAPA SENDROMU

PAPA SENDROMU
Pyogenik Steril Afrit, Pyoderma Gangrenosum, Akne

BLAU SENDROMU

CRYOPYRINOPATILER
Ailevi Soğuk Otoinflamatuar Sendrom

Muckle-Wells Sendromu

Kronik Infantil Nörolojik Kutanöz ve Artiküler Sendrom

REFERANSLAR

 

 

REFERANSLAR

  1. Gershoni-Baruch R, Shinawi M, Leah K, Badarnah K, Brik R. Familial Mediterranean fever: prevalence, penetrance and genetic drift. Eur J Hum Genet 2001;9:3-7.
  2. Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet, 1998;351:659- 664.
  3. Shinozaki K, Agematsu K, Yasui K, et al. Familial Mediterranean fever in 2 Japanese families. J Rheumatol 2002;29:1324-1325.
  4. Yılmaz E, Özen S, Balcı B et al. Mutation frequency of familial mediterranean fever and evidence of a high a carrier rate in the Turkish population. Eur J Hum Genet 2001;9:553-555.
  5. Yazıcı H, Özdoğan H. Familial Mediterranean fever in Turkey. Sohar E, Gafni J, Pras M, eds. Proceeding of the I. International Conference on FMF, Tel Aviv: Freund, 1997; 66-71.
  6. Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae J.J., Oddoux C, Wood G, Azzaro M, Palumbo G, Giustolisi R, Pras M, Ostrer H and Kastner DL. Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal Slew Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population. Am J Hum Genet 1999;64:949-962.
  7. Doğanavşargil E, Keser G. Ailesel Akdeniz Ateşi. Klinik Romatoloji, İstanbul, Deniz Matbaası, Ege Romatoloji 1999;467-474.
  8. Mansfield E, Chae JJ, Komarow HD, Brot TM, Frucht DM, Askentijevich I, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalises with actin filaments. Blood 2001;98:85.
  9. Bernot A, da Silva C, Petit J.L., Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dode C, Pecheux C, Nedelee B,Medaxian J, Rozenbaum M, Rosner I, Delpech M, Gratenau G, Demaille J,Weissenbach J, Touitou I. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 1998;7:1317-1325.
  10. Shohat M, Magal N, Shohat T et all. Phenotype-genotype correlationin FMF:evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 1999;7:287-92.
  11. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely the cause familial Mediteranean fever. Cell 1997;90: 797-807.
  12. Cattan D, Delpech M. Fievre mediterraneenne familiale (maladie periodique): Hepato-Gastro 1996;3:369-76.
  13. Cazeneuve C, Sarkisian T, Pecheux C, et al. MEFV-gene analiysis 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.
  14. Kone-Paut I, Dubuc M, Sportouch J,et al. Phenotype-genotype correlation in 91 patients with Familial Mediterranean Fever reveals a high frequency of cutaneomucous features. Rheumatol 2000;39:1275-1279.
  15. Medlej-Hashim M, Delague V, Choueri E, et al. Amyloidosis in Familial Mediterranean Fever patients:correlation with MEFV genotype and SAAI and MICA polymorphisims effects. BMC Med Genet 2004;5(4):1-6.
  16. Tekin M, Yalçınkaya F, Çakar N, et al. MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis? Clin Genet 2000;57:430-434.
  17. Eisenberg S, Aksentijevich I, Deng Z, Kastner D.L., and Matzner J. Diagnosis of Familial Mediterranean Fever by a Molecular Genetics Method. Ann Int Med 1998;129(7):243-251.
  18. Pras M. Familian Mediterranean fever: from the clinical syndrome to the cloning of the pyrin gene. Scand J Rheumatol 1998;27:92-97.
  19. Goldfinger S.E. Colchicine for Familial Mediterranean Fever. (Letter) New Eng J Med 1972;287:1302.
  20. The French FMF Consorsium. Candidate gene for familial Mediteranean fever. Natur Genet 1997;17:25-31.
  21. Notarnicola C, Didelot MN, Kone-Paut I, Seguret F, Demaille J, Toitou I. Reduced MEFV messenger RNA expression in patient with familial Mediterranean fever. Arthritis Rheum, 2002;46(10): 2785-2793.
  22. Barakat MH, Malhas LN, Gumaa KK. Catecholamine metabolism in recurrent hereditary polyserositis. Pathogenesis of acute inflammation: The retention leakage hypothesis. Biomed Pharmacother 1989; 43: 763-69.
  23. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever.A survey of 470 cases and review of the literature. N J Med 1967; 43: 227-53.
  24. Akarsu N, Saatçi U, Ozen S, Bakkaloglu A, Beşbaş N, Sarfarazi M. Genetic linkage study of familial Mediterranean fever (FMF) to 16pl3.3 and evidence for genetic heterogeneity in the Turkish population. J. Med. Genet. 1997;34 :7573-578.
  25. Amyloidosis FMF and MEFV gene. Amyloid: Int. J. Exp. Clin. Invest 2000;7:289-293
  26. MichaeliD, PrasM, RosenN. Intestinal strangulation complicating familial Mediterranean fever(FMF). B Med J 1966;2:30-2.
  27. Ismacho vich B, Zemer D, Revach M, Serr DM, Sonar E The causes of sterility in females with familial Mediterranean fever. Sterility and Fertility 1973;24:844-7.
  28. Reissmann P, Durst AL, Rivkind A, Szold A, Ben-Chetrit E, Elective laparoscopic appendectomy in patients with Familial Mediterranean fever. World J Surg 1994; 18:139-41.
  29. Desnick RJ. The porphyrias. In: In Isselbacher KJ, ed. Harrison’s principle of internal medicine,13. edition New York: Mc Graw Hill, 1994 pp 2073-79.
  30. Zimand S, Tauber T, Hegesch T, Aladjem M: Familial Mediterranean fever presenting with massive cardiac tamponade. Clin Exp Rheumatol 1994;12:67.
  31. Kees S, Langevitz P, Zemer D, Padeh S, Pras M, Livneh A. Pericarditis as a rare manifestation of familial Mediterranean fever (FMF).In: Sohar E, Gafni J, Pras M, eds. Familial Mediterranean Fever. Tel Aviv: Freund Publishing House 1997:129-31.
  32. Dabestani A, Noble LM, Child JS, et al: Pericardial disease in familial Mediterranean fever. An echocardiographic study. Chest 1982 ;81: 592.
  33. Pras ER, Livneh A, Balow JE Jr, Pras El, et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet. 1998;75:216-19.
  34. Majeed HA, Barakat M. Familial Mediterranean fever (recurrent hereditary poly serositis) in children: analysis of 88 cases. Eur J Pediatr 1989;148:636-41.
  35. Sneh E, Pras M, Michaeli D, Sham N, Gafni J. Protracted arthritis in familial Mediterranean fever. Rheumatol Rehabil 1977;16:102-6.
  36. Gedalia A, Adar A, Gorodischer R. Familial Mediterranean fever in children.J Rhumatol (Suppl)1992;35:1-9.
  37. 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 Arthdritis Rheum 1997; 27: 169-72.
  38. Yalçınkaya F, Tekin M, Turner N, Ozkaya N, Protracted arthritis of Familial Mediterranean fever (an unusual complication). Br J Rheum 36: 1228-30.
  39. Langewitz P, Livneh A, Zemer D, Shemer J, Pras M, Seronegative spondyloarthropathy in familial Mediterranean fever. Semin Arthritis Rheum 1997;27: 67-72.
  40. Langevitz P, Zemer D, Livneh A, Shemer J, Pras M. Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol 1994;21:1708-9.
  41. Zemer D: Myalgia in patients with Familial Mediterranean Fever. Harefuah 1984; 106:232.
  42. Buskila D, Zacks N, Neuman L et al. Quality of life of patients with Familial Mediterranean Fever. Clin Exp Rheumatol 1997; 15: 355-60.
  43. Majeed HA, Rawashdeh M, El Shanti H, Qubain H, Khuri-Bulos, Shahin M. Familial Mediterranean fever in children: the expanded profile. Q J Med 1999;92:309-18.
  44. 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 1990;75:607-16.
  45. Flatau E, Kohn D, Schiller D et al. Schönlein-Henoch syndrome in patients with FMF. Arthritis Rheum 1982;25:42-47.
  46. Savi M, Asinari G, Gaudiano V et al Unusual immunologic findings in familial Mediterranean fever. Arch Intern Med 1978; 138: 644-645.
  47. Reimann HA, Coppola ED, Villegas GR. Serum complement defects in periodic diseases. Ann Intern Med 1970; 73: 737-740.
  48. Zlotnick A, Levo Y, Fischel R et al Circulating immune complexes in familial Mediterranean fever, systemic lupus erythematosus and HBsAg carriers. Harefuah 1979; 99: 55-57 (Abstract)
  49. Tekin M, Yalçınkaya F, Tümer N, et al. Familial Mediterranean fever
  50. Henckes M, Roskams T, Vanneste S, Van Damme B, Vanrenterghem Y. Polyarteritis nodosa type vasculitis in a patient with familial Mediterranean fever treated with cyclosporin A. Transpl Int 1994;7:292-296.
  51. Eshel G, Vinagrad I, Barr J, Zemer D. Acute scrotal pain complicating familial Mediterranean fever in children. Br J Surg 1994;81: 894-96.
  52. Lineh A, Madgar I, Langeviz P, Zemer D. Recurrent episodes of acute scrotum with ischemic testicular necrosis in a patient with familial Mediterranean fever. J Urol 1994;151:431-32.
  53. Moskovitz B, Bolkier M, Nativ O. Acute orchitis in recurrent polyserositis. J Pediatr Surg 1995;30:1517-18.
  54. Akar S, SirinA, Onen F, Cobankara V, on behalf of the Turkish FMF Study Group (2002) The results of a nationwide, multicenter analysis of the clinical and genetic characteristics of the Turkish FMF patients (abstract). Clin Exp Rheumatol 20 [Suppl 26]:S92
  55. Gedalia A, Zamir S. Neurologic manifestations of familial Mediterranean ] fever. Pediart Neurol 1993;9:301-2.
  56. Ehr enfeld M, Brzezinski A, Levy M Eloakim M. Fertility and obsetetric history in patients with familial Mediterranean fever on long term colchicine therapy. Br J Obstet Gynaecol 1987;94: 1186-91.
  57. Rabinovitch O, Zemer D, Kukia E, sohar E, Mashiach S. Colchicine treatment in conception and pregnancy; Two hundred thirty-one, pregnancies in patients wiht familial Mediterranean fever. Am J Repred Immunol 1992;28:245-46
  58. Shiora M, Taniguchi S, Masumoto J, Yasui K, Koike K, Komiyama A, Sagara J. ASC, which composed of a PYD and CARD, is up-regulated by inflamation and apoptosis in human neutrophils. Biochem Biophys Res Commun . 2002;293:1314-1318.
  59. Eliakim M, Levy M, Ehrenfeld M. Laboratory examinations. In: Recurrent Polyserositis (familial Mediterranean fever, periodic disease). Amsterdam: Elsevier North Hollan.1981:37-95.
  60. Celkan T, Çelik M, Kasapçopur Ö, et al. The anemia of familial Mediterranean fever disease. Ped Hematol Oncol 2005;22:657-665.
  61. Erken E, Gunesacar R, Ozbek S, Konca K. Serum soluble interleukin 2 receptor levels in familial Mediterranean fever. Ann Rheum Dis, 1996;55:852- 855.
  62. Matzner Y, Brezizinski A. C5a-inhibitor deficiency in peritoneal fluids from patients with Familial Mediterranean Fever N Engl J Med 1984;311:287-290.
  63. Livneh A, Langevitz P, Zemer D. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. Oct; 40(10) : 1879-85, 1997.
  64. Daniels M, Shohat T, Brenner-Ullman A, Shohat VI. Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populationsin Israel. Am J Med Genet 1995;55 :311-314.
  65. French FMF Consortium. Localization of the familial Mediterranean fever (FMF) gene to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes : Am J Hum Genet 1996;59:603-12.
  66. Özkan E, Okur O, Ekmekci A, Ozcan R, Tag T. A new approach to the treatment of periodic fever.Med Bull Istanbul 1972:44-49.
  67. Kershenobich D, Varga F, Garcia Tao G, Tamayo RP, Gent M, Rojkind M. Colchicine inthe treatment of cirrhosis of the liver. N Engl. J Med 1988;318:1709-13.
  68. 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 Eng J Med 1986;314:1001-5.
  69. Friman C, Pettersson T. Amyloidosis. Curr Opin Rheumotol 1996;8:62-71.
  70. Bakkaloğlu A. Familial Mediterranean Fever; Pediatric Nephrol 2003;18:853-859.
  71. Benson MB, Cohen AS. Serum amyloid A protein in amyloidosis, rheumatic and neoplastic diseases. Arthritis Rheum 1979;22:36-42.
  72. Heller H, Sohar E, Gafni J, Heller J. Amiloidosis in familial Mediterranean fever. An independent genetically determined character. Arch Intern Med 1961;107:539-55.
  73. Rogers DB. Shohat M, Petersen CM, Bickal J, Congleton J, Schwabe AD, Rotter JI. Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am J Med Genet 1989;34:168-172
  74. Aivasian AA, Savgoridniaia AM, Abramiam MK Im-munogenesis of periodic disease Klin Med (Mosk) 1977; 55:41-97.
  75. Özel A, Demirtürk L., Yazgan Y., Familial Mediterranean Fever. A review of the disease and clinical and laboratory findings in 105 patients. Dig Liver Dis 2000;32:504-9.
  76. Hoffman HM., Hereditary immunologic disorders caused by pyrin and cryopyrin, Curr Allergy Asthma Rep. 2007;7(5):323-30.
  77. Grateau G., Autoinflammatory diseases, Acta Clin Belg. 2006;61(5):264-9
  78. Galeazzi M, Gasbarrini G, Ghirardello A, Grandemange S, Hoffman HM, Manna R, Podswiadek M, Punzi L, Sebastiani GD, Touitou I, Doria A. ,2006, Autoinflammatory syndromes, Clin Exp Rheumatol., 24(1 Suppl 40):S79-85.
  79. Stojanov S., Kastner D.L., 2005, Familial Autoinflammatory Diseases, Curr Opin Rheumatol, 17:586-99.
  80. Kasapçopur Ö., Arısoy N., Ailesel Akdeniz Ateşi ve diğer Ootoinflamatuar Hastalıklar, Türk Pediatri Arşivi, 2006; 41: 9-17.
  81. Dewalle M., Domingo C., Rozenbaum M. Ve ark., Genotype-Phenotype corelation in Jewish patients suffering from Familial Mediterrenean Fever, Eur. J.Hum.Genet., 1998;6:95-7.
  82. Siegal S., Benign Paroxysmal Peritonitis, Ann. Intern. Med., 1945; 23:1-21.  
  83. Sohar E., Gafni J., Pras M., Heller H., FMF. A survey of 470 cases and review of the literature, N. J. Med., 1967; 43: 227-53.
  84. Pras E., et al., 1992, mapping of a gene causing FMF to the short arm of chrosome 16, N. Engl. J. Med.,326:1509-13.
  85. Livneh A., Langevitz P., Shinar Y. ve ark.,MEFV Mutation Analysisin patient suffering from amiloidosis of Familial Mediterrenean Fever, Amyloid, 1999; 6:1-6.  
  86. Erken E., Turkiye Klinikleri J Int Med Sci 2006, 2(8):4-8, 9-11.
  87. Doğanavşargil E. Ailesel Akdeniz Ateşi. In: Doğanavşargil E, Gümüşdiş G, (editörler). Klinik Romatoloji El Kitabı. İzmir, Güven Kitabevi, 2003; 541-57.
  88. Heller H., Sohar E., Sherf L.FMF, Ach. Intern. Med., 1958; 102:50-71.
  89. Touitou I., 2001, The spectrum of Familial Mediterranean Fever (FMF) mutations, Eur J Hum Genet., 9(7):473-83.
  90. Notarnicola C, Didelot MN, Koné-Paut I, Seguret F, Demaille J, Touitou I. ,2002, Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever, Arthritis Rheum.,10:2785-93.
  91. Balci-Peynircioglu B, Waite AL, Schaner P, Taskiran ZE, Richards N, Orhan D, Gucer S, Ozen S, Gumucio D, Yilmaz E., Expression of ASC in renal tissues of familial mediterranean fever patients with amyloidosis: postulating a role for ASC in AA type amyloid deposition, Exp Biol Med (Maywood). 2008;233(11):1324-33.
  92. 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: 285-286. 
  93. Bodar EJ, van der Hilst JC, van Heerde W, van der Meer JW, Drenth JP, Simon A., 2007, Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome, Blood, 109(6):2416-8.
  94. Caroli F., Pontillo A., D’Osualdo A., Travan L., Ceccherini I., Crovella S., Alessio M., Stabile A., Gattorno M., Tommasini A., Martini A., Lepore L., Clinical and genetic characterization of Italian patients affected by CINCA syndrome, Rheumatology, 2007; 46: 473-478.
  95. Centola M., Wood G., et al., 2000, the gen for FMF, MEFV is expressed in early leukocyte development and is regulated in response to inflammatory mediators, Blood, 95:3223-31.
  96. Chae JJ, Komarow HD, Cheng J, Wood G, Raben N, Liu PP, Kastner DL. , 2003, Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis, Mol Cell., 11(3):591-604.
  97. Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, Kastner DL. ,2006, The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL1beta production, Proc Natl Acad Sci U S A., 103(26):9982-7.
  98. Chou JJ, Matsuo H, Duan H, Wagner G., Solution structure of the RAIDD CARD and model for CARD/CARD interaction in caspase-2 and caspase-9 recruitment, 1998;94(2):171-80.
  99. Church LD, Cook GP, McDermott MF., Primer: inflammasomes and interleukin 1beta in inflammatory disorders, Nat Clin Pract Rheumatol. 2008; 4(1):34-42.
  100. Dewalle M., Domingo C., Rozenbaum M. Ve ark., Genotype-Phenotype corelation in Jewish patients suffering from Familial Mediterrenean Fever, Eur. J.Hum.Genet., 1998;6:95-7.
  101. Doğanavşargil E. Ailesel Akdeniz Ateşi. In: Doğanavşargil E, Gümüşdiş G, (editörler). Klinik Romatoloji El Kitabı. İzmir, Güven Kitabevi, 2003; 541-57.
  102. D'Osualdo A, Ferlito F, Prigione I, Obici L, Meini A, Zulian F, Pontillo A, Corona F, Barcellona R, Di Duca M, Santamaria G, Traverso F, Picco P, Baldi M, Plebani A, Ravazzolo R, Ceccherini I, Martini A, Gattorno M., Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications, Arthritis Rheum., 2006; 54(3):998-1008.
  103. Drenth J.P., van der Meer JW, Hereditary periodic fever, N. Engl. J. Med., 2001; 345; 1748-1757.
  104. Erken E., Turkiye Klinikleri J Int Med Sci 2006, 2(8):4-8, 9-11.
  105. Galeazzi M, Gasbarrini G, Ghirardello A, Grandemange S, Hoffman HM, Manna R, Podswiadek M, Punzi L, Sebastiani GD, Touitou I, Doria A. ,2006, Autoinflammatory syndromes, Clin Exp Rheumatol., 24(1 Suppl 40):S79-85.
  106. Goldfinger S.E., Colchicine for Familial Mediterrenean Fever, Letter, New Eng. J. Med., 1972; 287:1302.
  107. Grateau G., Autoinflammatory diseases, Acta Clin Belg. 2006;61(5):264-9
  108. Grenier JM, Wang L, Manji GA, Huang WJ, Al-Garawi A, Kelly R, Carlson A, Merriam S, Lora JM, Briskin M, DiStefano PS, Bertin J., Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1, FEBS Lett. 2002; 530(1-3):73-8.
  109. Gumucio DL, Diaz A, Schaner P, Richards N, Babcock C, Schaller M, Cesena T., Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis, Clin Exp Rheumatol. 2002;20(4 Suppl 26):S45-53.
  110. Haghighat M., Derakhshan A., Karamifar H., 2006, FMF, Shiraz E Medical Journal, 7:1-18.
  111. Hasegawa M, Imamura R, Kinoshita T, Matsumoto N, Masumoto J, Inohara N, Suda T., 2005, ASC-mediated NF-kappaB activation leading to interleukin-8 production requires caspase-8 and is inhibited by CLARP, J Biol Chem., 280(15):15122-30.
  112. Heller H., Sohar E., Sherf L.FMF, Ach. Intern. Med., 1958; 102:50-71.
  113. Hoffman HM., Hereditary immunologic disorders caused by pyrin and cryopyrin, Curr Allergy Asthma Rep. 2007;7(5):323-30.
  114. Kasapçopur Ö., Arısoy N., Ailesel Akdeniz Ateşi ve diğer Ootoinflamatuar Hastalıklar, Türk Pediatri Arşivi, 2006; 41: 9-17.
  115. Kiraz S, Ertenli I, Oztürk MA, Haznedaroglu IC, Calgüneri M, Atalar E, Ozbalkan Z, Kirazli S, Celik I., 2003, Increased soluble FAS suggests delayed apoptosis in familial Mediterranean fever complicated with amyloidosis, J Rheumatol., 30(2):313-5.
  116. Kobayashi S., 2005, Hereditary Periodic Fever Syndromes, Internal Medicine, Vol.44,No.7.
  117. Livneh A., Langevitz P., Shinar Y. ve ark.,MEFV Mutation Analysisin patient suffering from amiloidosis of Familial Mediterrenean Fever, Amyloid, 1999; 6:1-6. 
  118. McDermott MF., A common pathway in periodic fever syndromes, Trends Immunol, 2004; 25: 457-460.
  119. Martinon F., Burns K., Tschopp J., The Inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-1B, Mol. Cell, 2002; 10:417-426.
  120. Masters,S.L.,  Lobito A.A., Chae J.J ve Kastner D.L., Herediter Tekrarlayıcı Ateşlerin Moleküler Patogenezindeki Son Gelişmeler, Curr Opin Allergy Clin Immunol, 2006; 6: 428-433.
  121. Masumoto J, Taniguchi S, Ayukawa K, Sarvotham H, Kishino T, Niikawa N, Hidaka E, Katsuyama T, Higuchi T, Sagara J., ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells, J Biol Chem. 1999;274(48):33835-8
  122. Masumoto J, Kobayashi H, Nakamura T, Kaneko Y, Ota H, Hasegawa M, Kobayashi Y, Suzuki T, Matsuda K, Sano K, Katsuyama T, Inohara N., 2006, Regulation of the ASC expressionin response to LPS stimulation is related to IL-8 secretion in the human intestinal mucosa, Biochem Biophys Res Commun., 346(3):968-73.
  123. Masumoto J, Taniguchi S, Nakayama J, Shiohara M, Hidaka E, Katsuyama T, Murase S, Sagara J. ,2001, Expression of apoptosis-associated speck-like protein containing a caspase recruitment domain, a pyrin N-terminal homology domain-containing protein, in normal human tissues, J Histochem Cytochem., 49(10):1269-75.
  124. Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthiere C, Touitou I., The infevers autoinflammatory mutation online registry: update with new genes and functions, Hum Mutat., 2008; 29(6):803-8.
  125. Notarnicola C, Didelot MN, Koné-Paut I, Seguret F, Demaille J, Touitou I. ,2002, Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever, Arthritis Rheum.,10:2785-93.
  126. Ozen S, Uckan D, Baskin E, Besbas N, Okur H, Saatci U, Bakkaloglu A.,2001,Increased neutrophil apoptosis during attacks of familial Mediterranean fever, Clin Exp Rheumatol;19(5 Suppl 24):S68-71.
  127. Ozen S, Hoffman HM, Frenkel J, Kastner D., Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6-10 November 2005, Ann Rheum Dis. 2006;65(7):961-4.
  128. Papin S, Cuenin S, Agostini L, Martinon F, Werner S, Beer HD, Grütter C, Grütter M, Tschopp J. ,2007, The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing, Cell Death Differ., 14(8):1457-66.
  129. Peynircioğlu B., Yılmaz E., 2006, Ailevi Akdeniz ateşi hastalığının moleküler temeli, Hacettepe Tıp Dergisi, 37:223-229.
  130. Pras E., et al., 1992, mapping of a gene causing FMF to the short arm of chrosome 16, N. Engl. J. Med.,326:1509-13.
  131. Richards N, Schaner P, Diaz A, Stuckey J, Shelden E, Wadhwa A, Gumucio DL. ,2001, Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis, J Biol Chem., 276(42):39320-9.
  132. Schaner PE, Gumucio DL., Familial Medietrrenean Fever in the post-genomic era: how an ancient disease is providing new insights into inflammatory pathways, Curr Drug Targets Inflamm Allergy, 2005;4(1):67-76.
  133. Shiohara M, Taniguchi S, Masumoto J, Yasui K, Koike K, Komiyama A, Sagara J., 2002, ASC, which is composed of a PYD and a CARD, is up-regulated by inflammation and apoptosis in human neutrophils, Biochem Biophys Res Commun., 293(5):1314-8.
  134. Shohat M., Magal N., et al., phenotype-genotype correlation in FMF: evidence for an association between Met694Val and Amyloidosis, 1999, Euro J Hum Genet., 7: 287-92.
  135. Siegal S., Benign Paroxysmal Peritonitis, Ann. Intern. Med., 1945; 23:1-21.  
  136. Sohar E., Gafni J., Pras M., Heller H., FMF. A survey of 470 cases and review of the literature, N. J. Med., 1967; 43: 227-53.
  137. Sutterwala FS, Ogura Y, Flavell RA., The inflammasome in pathogen recognition and inflammation., J Leukoc Biol. 2007;82(2):259-64.
  138. Stehlik C, Fiorentino L, Dorfleutner A, Bruey JM, Ariza EM, Sagara J, Reed JC., The PAAD/PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor kappaB activation pathways., J Exp Med. 2002, 16;196(12):1605-15.
  139. Stojanov S., Kastner D.L., 2005, Familial Autoinflammatory Diseases, Curr Opin Rheumatol, 17:586-99.
  140. The French FMF Consortium, A Candidate Gene For FMF, Nature Genetics, 1997; 17: 25-31.
  141. The International FMF Consortium, Ancient missense mutations in a new member of the RoRet gene family are likely the cause FMF, Cell, 1997; 90:797-807.
  142. Touitou I., 2001, The spectrum of Familial Mediterranean Fever (FMF) mutations, Eur J Hum Genet., 9(7):473-83.
  143. Touitou I, Notarnicola C, Grandemange S., Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?, Am J Pharmacogenomics. 2004;4(2):109-18.
  144. Tufan A, Babaoglu MO, Akdogan A, Yasar U, Calguneri M, Kalyoncu U, Karadag O, Hayran M, Ertenli AI, Bozkurt A, Kiraz S., Association of drug transporter gene ABCB1 (MDR1) 3435C to T polymorphism with colchicine response in familial Mediterranean fever., J Rheumatol. 2007 Jul;34(7):1540-4.
  145. Tunca M., Ben Chetrit E., FMF in 2003, Pathogenesis and management, Clin Exp Rheu, 2003; 30: 49-52.
  146. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, Tutar E, Ozen S, Topaloglu R, Yilmaz E, Arici M, Bakkaloglu A, Besbas N, Akpolat T, Dinc A, Erken E; Turkish FMF Study Group., 2005, Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore), 84(1):1-11.
  147. Tunca M, Ozdogan H., 2005, Molecular and genetic characteristics of hereditary autoinflammatory diseases, Curr Drug Targets Inflamm Allergy, 4(1):77-80.
  148. Turul T., Ersoy F.,2004,  Dostu Düşmanı Ayıran Bir Doğal İmmünite Bileşeni: Toll Like Reseptörler (TLR), Hacettepe Tıp Dergisi, 35: 114-118.
  149. Wang L, Manji GA, Grenier JM, Al-Garawi A, Merriam S, Lora JM, Geddes BJ, Briskin M, DiStefano PS, Bertin J., PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing., J Biol Chem. 2002,16;277(33):29874-80.
  150. Wang Y, Hasegawa M, Imamura R, Kinoshita T, Kondo C, Konaka K, Suda T., PYNOD, a novel Apaf-1/CED4-like protein is an inhibitor of ASC and caspase-1, Int Immunol. 2004;16(6):777-86.
  151. Yoshida K., Kanaoka S., Kajimura M. ,et al., 2003, a Japanase case of FMF with family history demonstrating a mutation in MEFV, Intern Med, 42: 761-4.
  152. Yu JW, Wu J, Zhang Z, Datta P, Ibrahimi I, Taniguchi S, Sagara J, Fernandes-Alnemri T, Alnemri ES., Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization, Cell Death Differ. 2006; 13(2):236-49.