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1Academic Journal
Authors: Рустам Мурадович Ниязов, Николай Николаевич Золотухин, Дарья Сергеевна Мамонькина, Асмар Айюбовна Мехралызаде, Лейла Мурадиновна Мисирова
Source: University Therapeutic Journal, Vol 7, Iss 3 (2025)
Subject Terms: семейная средиземноморская лихорадка, ССЛ, периодическая болезнь, ПБ, мутация в гене WEFV, пурин, Medicine
File Description: electronic resource
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2Academic Journal
Authors: Ganich E.G., Davydov D.A., Kuznetsova D.A., Gorbacheva D.S., Sidorenko D.V., Lapin S.V., Nazarov V.D., Deviatkina Y.A., Shchukina O.B.
Contributors: 1
Source: Almanac of Clinical Medicine; Vol 53, No 4 (2025); 217-225 ; Альманах клинической медицины; Vol 53, No 4 (2025); 217-225 ; 2587-9294 ; 2072-0505
Subject Terms: familial Mediterranean fever, MEFV, Crohn's disease, colchicine resistance, upadacitinib, canakinumab, ustekinumab, семейная средиземноморская лихорадка, болезнь Крона, резистентность к колхицину, упадацитиниб, канакинумаб, устекинумаб
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Relation: https://almclinmed.ru/jour/article/view/17418/1745; https://almclinmed.ru/jour/article/view/17418/1758; https://almclinmed.ru/jour/article/downloadSuppFile/17418/160358; https://almclinmed.ru/jour/article/downloadSuppFile/17418/160359; https://almclinmed.ru/jour/article/downloadSuppFile/17418/160360; https://almclinmed.ru/jour/article/downloadSuppFile/17418/160638; https://almclinmed.ru/jour/article/downloadSuppFile/17418/160639; https://almclinmed.ru/jour/article/downloadSuppFile/17418/160640; https://almclinmed.ru/jour/article/downloadSuppFile/17418/160641; https://almclinmed.ru/jour/article/view/17418
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3Academic Journal
Source: Meditsinskiy sovet = Medical Council; № 1 (2024); 276–280 ; Медицинский Совет; № 1 (2024); 276–280 ; 2658-5790 ; 2079-701X
Subject Terms: TRAPS, ibuprofen, auto-inflammatory diseases, family mediterranean fever, HIDS, MKD, CAPS, ибупрофен, аутовоспалительные заболевания, семейная средиземноморская лихорадка
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Relation: https://www.med-sovet.pro/jour/article/view/8106/7164; Захарова ИН, Османов ИМ, Творогова ТМ, Горяйнова АН, Дмитриева ЮА, Воробьева АС, Короид НВ. Длительная лихорадка у ребенка: в чем причина, как обследовать, лечить или не лечить? Медицинский совет. 2020;(10):151–162. https://doi.org/10.21518/2079-701X-2020-10-151-162.; Сомова ТМ. Аутовоспалительное заболевание – синдром гипериммуноглобулинемии D. Медицинский вестник Юга России. 2022;13(2):141–145. https://doi.org/10.21886/2219-8075-2022-13-2-141-145; Салугина СО, Федоров ЕС, Агафонова ЕМ. Моногенные аутовоспалительные заболевания у детей и взрослых: что необходимо знать ревматологу. Научно-практическая ревматология. 2019;57(2):125–132. https://doi.org/10.14412/1995-4484-2019-125-132.; Гатторно М. Аутовоспалительные заболевания у детей. Вопросы современной педиатрии. 2014;13(2):55–64. https://doi.org/10.14412/1995-4484-2019-125-132.; Крутихина СБ, Горелов АВ, Яблокова ЕА, Тюрина ЕН, Мелешкина АВ, Чебышева СН, Савватеева ОА. Семейная средиземноморская лихорадка у детей: современные методы диагностики и подходы к терапии болевого абдоминального синдрома. Вопросы детской диетологии. 2021;19(2):76–82. https://doi.org/10.20953/1727-5784-2021-2-76-82.; Lancieri M, Bustaffa M, Palmeri S, Prigione I, Penco F, Papa R et al. An Update on Familial Mediterranean Fever. Int J Mol Sci. 2023;24(11):9584. https://doi.org/10.3390/ijms24119584.; Diaz A, Hu C, Kastner DL, Schaner P, Reginato AM, Richards N, Gumucio DL. Lipopolysaccharide-Induced Expression of Multiple Alternatively Spliced MEFV Transcripts in Human Synovial Fibroblasts: A Prominent Splice Isoform Lacks the C-Terminal Domain That Is Highly Mutated in Familial Mediterranean Fever. Arthritis Rheum. 2004;50(11):3679–3689. https://doi.org/10.1002/art.20600.; Zadeh N, Getzug T, Grody WW. Diagnosis and Management of Familial Mediterranean Fever: Integrating Medical Genetics in a Dedicated Interdisciplinary Clinic. Genet Med. 2011;13(3):263–269. https://doi.org/10.1097/GIM.0b013e31820e27b1.; Di Donato G, d’Angelo DM, Breda L, Chiarelli F. Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives. Int J Mol Sci. 2021;22(12):6360. https://doi.org/10.3390/ijms22126360.; Zhang S. Natural history of mevalonate kinase deficiency: a literature review. Pediatr Rheumatol Online J. 2016;14(1):30. https://doi.org/10.1186/s12969-016-0091-7.; Федоров ЕС, Салугина СО, Соболева МК. Семейный случай TRAPS-синдрома в российской популяции. Современная ревматология. 2015;9(1):60–65. https://doi.org/10.14412/1996-7012-2015-1-60-65.; Shu Z, Zhang Y, Han T, Li Y, Piao Y, Sun F et al. The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China. Front Immunol. 2023;14:1267933. https://doi.org/10.3389/fimmu.2023.1267933.; Ter Haar N, Lachmann H, Ozen S, Woo P, Uziel Y, Modesto C et al. Treatment of autoinflammatory diseases: results from the eurofever registry and a literature review. Ann Rheum Dis. 2013;72(5):678–685. https://doi.org/10.1136/annrheumdis-2011-201268.; Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G et al. EULAR recommendations for the management of familial mediterranean fever. Ann Rheum Dis. 2016;75(4):644–651. https://doi.org/10.1136/annrheumdis-2015-208690.; Stahl S, Graslund T, Eriksson Karlstrom A, Frejd FY, Nygren PA, Lofblom J. Affibody molecules in biotechnological and medical applications. Trends Biotechnol. 2017;35(8):691–712. https://doi.org/10.1016/j.tibtech.2017.04.007.; Kullenberg T, Lofqvist M, Leinonen M, Goldbach-Mansky R, Olivecrona H. Long-term safety profile of anakinra in patients with severe cryopyrinassociated periodic syndromes. Rheumatology (Oxford). 2016;55(8):1499–1506. https://doi.org/10.1093/rheumatology/kew208.; Ozen S, Kuemmerle-Deschner JB, Cimaz R, Livneh A, Quartier P, Kone-Paut I et al. International retrospective chart review of treatment patterns in severe FMF, TRAPS and MKD/HIDS. Arthritis Care Res (Hoboken). 2017;69(4):578–586. https://doi.org/10.1002/acr.23120.; Nedjai B, Quillinan N, Coughlan RJ, Church L, McDermott MF, Hitman GA et al. Lessons from anti-TNF biologics: infliximab failure in a TRAPS family with the T50M mutation in TNFRSF1A. Adv Exp Med Biol. 2011;691:409–419. https://doi.org/10.1007/978-1-4419-6612-4_43.; Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y et al. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J Clin Invest. 2018;128(7):3041–3052. https://doi.org/10.1172/JCI98814.; Shendi HM, Devlin LA, Edgar JD. Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome. J Clin Rheumatol. 2014;20(2):103–105. https://doi.org/10.1097/01.RHU.0000442576.41537.de.; Kaplan E, Mukamel M, Barash J, Brik R, Padeh S, Berkun Y et al. Protracted febrile myalgia in children and young adults with familial mediterranean fever: analysis of 15 patients and suggested criteria for working diagnosis. Clin Exp Rheumatol. 2007;25(4):114–117. Available at: https://pubmed.ncbi.nlm.nih.gov/17949564.; Морозова ТЕ, Андрущишина ТБ, Антипова ЕК. Ибупрофен: безопасность и эффективность применения в широкой клинической практике. Терапевтический архив. 2013;85(3):118–124. Режим доступа: https://www.mediasphera.ru/issues/terapevticheskij-arkhiv/2013/3/030040-36602013322.
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4Academic Journal
Source: Almanac of Clinical Medicine; Vol 49, No 7 (2021); 496-502 ; Альманах клинической медицины; Vol 49, No 7 (2021); 496-502 ; 2587-9294 ; 2072-0505
Subject Terms: familial Mediterranean fever, MEFV, AA amyloidosis, colchicine, семейная средиземноморская лихорадка, АА-амилоидоз, колхицин
File Description: application/pdf
Relation: https://almclinmed.ru/jour/article/view/1589/1404; https://almclinmed.ru/jour/article/downloadSuppFile/1589/2621; https://almclinmed.ru/jour/article/downloadSuppFile/1589/2622; https://almclinmed.ru/jour/article/view/1589
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5Academic Journal
Authors: Olga V. Zhogova, Sergey V. Ivanovskiy, Natalya V. Lagunova, Anastasia V. Tumakova, Mikhail M. Kostik, О. В. Жогова, С. В. Ивановский, Н. В. Лагунова, А. В. Тумакова, М. М. Костик
Contributors: The article has been funded by Novartis. Company employees did not participate in planning, conducting and discussing of the results of this study., Статья опубликована при поддержке компании «Новартис». Сотрудники компании не участвовали в планировании, проведении и обсуждении результатов настоящего исследования.
Source: Current Pediatrics; Том 19, № 3 (2020); 200-206 ; Вопросы современной педиатрии; Том 19, № 3 (2020); 200-206 ; 1682-5535 ; 1682-5527
Subject Terms: аутовоспалительные заболевания, familial Mediterranean fever, Crimean Tatar, periodic fever, autoinflammatory diseases, семейная средиземноморская лихорадка, крымские татары, периодическая лихорадка
File Description: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
Relation: https://vsp.spr-journal.ru/jour/article/view/2396/941; https://vsp.spr-journal.ru/jour/article/view/2396/1000; Aksentijevich I, Kastner DL. Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol. 2011;7(8):469–478. doi:10.1038/nrrheum.2011.94.; 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-1beta production. Proc Natl Acad Sci U S A. 2006;103(26):9982–9987. doi:10.1073/pnas.0602081103.; 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(2):227–253. doi:10.1016/0002-9343(67)90167-2.; Yilmaz E, Ozen S, Balci B, 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(7):553–555. doi:10.1038/sj.ejhg.5200674.; Touitou I. Standardized testing for mutations in familial Mediterranean fever. Clin Chem. 2003;49(11):1781–1782. doi:10.1373/clinchem.2003.025791.; Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001;9(7):473–483. doi:10.1038/sj.ejhg.5200658.; 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(4):797–807. doi:10.1016/s0092-8674(00)80539-5.; French FMFC. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25–31. doi:10.1038/ng0997-25.; Padeh S, Shinar Y, Pras E, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol. 2003;30(1):185–190.; Marek-Yagel D, Berkun Y, Padeh S, et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum. 2009;60(6):1862–1866. doi:10.1002/art.24570.; 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(6):1851–1861. doi:10.1002/art.24569.; Ece A, Cakmak E, Uluca U, et al. The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey. Rheumatol Int. 2014;34(2):207–212. doi:10.1007/s00296-013-2858-1.; Kastner DL, Aksentijevich I. Intermittent and periodic arthritis syndromes. In: Koopman WJ, Moreland LW, eds. Arthritis and allied conditions: a textbook of rheumatology. 15th ed. Philadelphia, USA: Lippincott Williams and Wilkins; 2005. pp. 1411–1461.; Жогова О.В., Лагунова Н.В., Ивановский С.В. и др. Семейная средиземноморская лихорадка в Республике Крым: описание серии случаев с анализом исторических и этнографических аспектов заболевания. Научно-практическая ревматология. — 2019. — Т. 57, № 3. — С. 339–344.; Tsuchiya-Suzuki A, Yazaki M, Nakamura A, et al. Clinical and genetic features of familial Mediterranean fever in Japan. J Rheumatol. 2009;36(8):1671–1676. doi:10.3899/jrheum.081278.; Lim AL, Jang HJ, Han JW, et al. Familial Mediterranean fever: the first adult case in Korea. J Korean Med Sci. 2012;27(11): 1424–1427. doi:10.3346/jkms.2012.27.11.1424.; Li J, Zhang Y, Wang W, et al. Three cases with familial Mediterranean fever misdiagnosed as juvenile idiopathic arthritis. Zhonghua Er Ke Za Zhi. 2017;55(5):383–387. doi:10.3760/cma.j.issn.0578-1310.2017.05.015.; Gattorno M, Hofer M, Federici S, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019;78(8): 1025–1032. doi:10.1136/annrheumdis-2019-215048.; Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75(4):644–651. doi:10.1136/annrheumdis-2015-208690.; Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10): 1879–1885. doi:10.1002/art.1780401023.; Pras M. Familial Mediterranean fever: from the clinical syndrome to the cloning of the pyrin gene. Scand J Rheumatol. 1998;27(2): 92–97. doi:10.1080/030097498440949.; Yalcinkaya F, Cakar N, Misirlioglu M, et al. Genotypephenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis. Rheumatology (Oxford). 2000;39(1):67–72. doi:10.1093/rheumatology/39.1.67.; Ozen S, Demirkaya E, Amaryan G, et al. Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children. Ann Rheum Dis. 2014;73(4):662–667. doi:10.1136/annrheumdis-2012-202708.; Ozen S, Aktay N, Lainka E, et al. Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease. J Clin Rheumatol. 2013 Aug;19(5):246-51. doi:10.1097/RHU.0b013e31829ce005.; Berkun Y, Ben-Chetrit E, Klar A, Ben-Chetrit E. Peritoneal adhesions and intestinal obstructions in patients with familial Mediterranean fever are they more frequent? Semin Arthritis Rheum. 2007;36(5): 316–321. doi:10.1016/j.semarthrit.2006.11.002.; Barut K, Sahin S, Adrovic A, et al. Familial Mediterranean fever in childhood: a single-center experience. Rheumatol Int. 2018;38(1):67–74. doi:10.1007/s00296-017-3796-0.; Rawashdeh MO, Majeed HA. Familial Mediterranean fever in Arab children: the high prevalence and gene frequency. Eur J Pediatr. 1996;155(7):540–544. doi:10.1007/bf01957901.; Tunca M, Akar S, Onen F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005;84(1):1–11. doi:10.1097/01.md.0000152370.84628.0c.; Mukhin NA, Kozlovskaya LV, Bogdanova MV, et al. Predictors of AA amyloidosis in familial Mediterranean fever. Rheumatol Int. 2015;35(7):1257–1261. doi:10.1007/s00296-014-3205-x.; Eshed I, Rosman Y, Livneh A, et al. Exertional leg pain in familial Mediterranean fever: a manifestation of an underlying enthesopathy and a marker of more severe disease. Arthritis Rheumatol. 2014;66(11):3221–3226. doi:10.1002/art.38797.; Jarjour RA, Al-Berrawi S. Familial Mediterranean fever in Syrian children: phenotype-genotype correlation. Rheumatol Int. 2015; 35(4):629–634. doi:10.1007/s00296-014-3116-x.; Manna R, Cerquaglia C, Curigliano V, et al. Clinical features of familial Mediterranean fever: an Italian overview. Eur Rev Med Pharmacol Sci. 2009;13 Suppl 1:51–53.; Colak S, Tekgoz E, Cinar M, Yilmaz S. The assessment of tocilizumab therapy on recurrent attacks of patients with familial Mediterranean fever: A retrospective study of 15 patients. Mod Rheumatol. 2020:1–3. doi:10.1080/14397595.2019.1709258.; Ugurlu S, Hacioglu A, Adibnia Y, et al. Tocilizumab in the treatment of twelve cases with aa amyloidosis secondary to familial mediterranean fever. Orphanet J Rare Dis. 2017;12(1):105. doi:10.1186/s13023-017-0642-0.; Akar S, Cetin P, Kalyoncu U, et al. Nationwide experience with off-label use of interleukin-1 targeting treatment in Familial Mediterranean Fever patients. Arthritis Care Res (Hoboken). 2018; 70(7):1090–1094. doi:10.1002/acr.23446.; Gul A. Approach to the patients with inadequate response to colchicine in familial Mediterranean fever. Best Pract Res Clin Rheumatol. 2016 Apr;30(2):296-303. doi:10.1016/j.berh.2016.09.001.; De Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes. N Engl J Med. 2018;378(20):1908–1919. doi:10.1056/NEJMoa1706314.; Laskari K, Boura P, Dalekos GN. Longterm Beneficial Effect of Canakinumab in Colchicine-resistant Familial Mediterranean Fever. J Rheumatol. 2017;44(1):102–109. doi:10.3899/jrheum.160518.
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6Academic Journal
Authors: Elena A. Ligostaeva, Nadezhda A. Tsurikova, Irina A. Tsiganok, Nataliya N. Kobzeva, Vadim Yu. Avdeenko, Е. А. Лигостаева, Н. А. Цурикова, И. А. Цыганок, Н. Н. Кобзева, В. Ю. Авдеенко
Contributors: Not specified, Не указан
Source: Current Pediatrics; Том 18, № 5 (2019); 362-368 ; Вопросы современной педиатрии; Том 18, № 5 (2019); 362-368 ; 1682-5535 ; 1682-5527
Subject Terms: нежелательные реакции, familial Mediterranean fever, clinical case, periodic disease, colchicine, canakinumab, interleukin-1, disease activity, adverse effect, семейная средиземноморская лихорадка, клинический случай, периодическая болезнь, колхицин, канакинумаб, интерлейкин 1, активность болезни
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J Am Med Assoc. 1948;136(4):239-244. doi:10.1001/jama.1948.02890210023004.; Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001;9(7):473-483. doi:10.1038/sj.ejhg.5200658.; Centola M, Wood G, Frucht DM, 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(10):3223-3231. doi:10.1182/blood.v95.10.3223.010k26_3223_3231.; Diaz A, Hu C, Kastner DL, et al. Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. Arthritis Rheum. 2004;50(11):3679-3689. doi:10.1002/art.20600.; Korkmaz C, Ozdogan H, Kasapcopur O, Yazici H. Acute phase response in familial Mediterranean fever. 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7Academic Journal
Authors: Z. S. Alekberova, E. L. Nasonov, З. С. Алекберова, Е. Л. Насонов
Source: Rheumatology Science and Practice; Vol 58, No 2 (2020); 183-190 ; Научно-практическая ревматология; Vol 58, No 2 (2020); 183-190 ; 1995-4492 ; 1995-4484
Subject Terms: атеросклероз, autoinflammatory diseases, gout, Familial Mediterranean Fever, Behсet's disease, atherosclerosis, аутовоспалительные заболевания, подагра, семейная средиземноморская лихорадка, болезнь Бехчета
File Description: application/pdf
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Атеросклероз: перспективы противовоспалительной терапии. Терапевтический архив. 2018;90(5):4-12.; Libby PJ. A interleukin-1 beta as a target for atherosclerosis therapy: biological basis of CANTOS and beyond. J Amer Coll Cardiol. 2017;70(18):2278-89. doi:10.1016/j.jacc.2017.09.028; Fiolet ATL, Nidorf SM, Mosterd A, Cornel JH. Colchicine in stable coronary artery disease. Clin Ther. 2019;41(1):30-40. doi:10.1016/j.clinthera.2018.09.011; Vaidya K, Martinez G, Patel S. The role of colchicine in acute coronary syndromes. Clin Ther. 2019;41(1):11-20. doi:10.1016/j.clinthera.2018.07.023; Hemkens LG, Ewald H, Gloy VL, et al. Colchicine for prevention of cardiovascular events. In: Hemkens LG, ed. Cochrane Database of Systematic Reviews. Chichester, UK: John Wiley & Sons, Ltd; 2016.; Nidorf SM, Eikelboom JW, Budgeon CA, Thompson PL. Lowdose colchicine for secondary prevention of cardiovascular disease. J Am Coll Cardiol. 2013;61:404-10. doi:10.1016/j.jacc.2012.10.027; Vaidya K, Arnott C, Martinez GJ, et al. Colchicine therapy and plaque stabilization in patients with acute coronary syndrome: A CT Coronary Angiography Study. JACC Cardiovascular Imaging 2017 Oct 14. doi:10.1016/j.jcmg.2017.08.013; Deftereos S, Giannopoulos G, Angelidis C, et al. AntiInflammatory Treatment With Colchicine in Acute Myocardial Infarction: A Pilot Study. Circulation. 2015;132:1395-403. doi:10.1161/CIRCULATIONAHA.115.017611; Tardif JC, Kouz S, Waters DD, et al. Efficacy and safety of lowdose colchicine after myocardial infarction. N Engl J Med. 2019;381(26):2497-505. doi:10.1056/NEJMoa1912388; Ridker PM, Everett BM, Thuren T, et al.; CANTOS Trial Group. Antiinflammatory therapy with canakinumab for atherosclerotic disease. N Engl J Med. 2017;377:1119-31. doi:10.1056/NEJMoa1707914; Hennessy T, Soh L, Bowman M, et al. The Low Dose Colchicine after Myocardial Infarction (LoDoCo-MI) study: A pilot randomized placebo controlled trial of colchicine following acute myocardial infarction. Am Heart J. 2019;215:62-9. doi:10.1016/j.ahj.2019.06.003; Nidorf SM, Fiolet ATL, Eikelboom JW, et al; LoDoCo2 Investigators. The effect of low-dose colchicine in patients with stable coronary artery disease: The LoDoCo2 trial rationale, design, and baseline characteristics. Am Heart J. 2019;218:46-56. doi:10.1016/j.ahj.2019.09.011; Nguyen MT, Fernando S, Schwarz N, et al. Inflammation as a therapeutic target in atherosclerosis. J Clin Med. 2019;8(8). doi:10.3390/jcm8081109; De Vera MA, Rahman MM, Bhole V, et al. Independent impact of gout on the risk of acute myocardial infarction among elderly women: a population-based study. Ann Rheum Dis. 2010;69(6):1162-4. doi:10.1136/ard.2009.122770; Seminog OO, Goldacre MJ. Gout as a risk factor for myocardial infarction and stroke in England: evidence from record linkage studies. Rheumatology (Oxford). 2013;52(12):2251-9. doi:10.1093/rheumatology/ket293; Kuo CF, Yu KH, See LC, et al. Risk of myocardial infarction among patients with gout: a nationwide population-based study. Rheumatology (Oxford). 2013;52(1):111-7. doi:10.1093/rheumatology/kes169; Crittenden DB, Lehmann RA, Schneck L, et al. Colchicine use is associated with decreased prevalence of myocardial infarction in patients with gout. J Rheumatol. 2012;39:1458-64. doi:10.3899/jrheum.111533; Solomon DH, Liu C-C, Kuo I-H, et al. Effects of colchicine on risk of cardiovascular events and mortality among patients with gout: a cohort study using electronic medical records linked with Medicare claims. Ann Rheum Dis. 2016;75:1674-9. doi:10.1136/annrheumdis-2015-207984; Solomon DH, Glynn RJ, MacFadyen JG, et al. Relationship of interleukin-1β blockade with incident gout and serum uric acid levels: Exploratory analysis of a randomized controlled trial. Ann Intern Med. 2018;169(8):535-42. doi:10.7326/M18-1167; Finkelstein Y, Aks SE, Hutson JR, et al. Colchicine poisoning: the dark side of an ancient drug. Clin Toxicol (Phila). 2010;48(5):407-14. doi:10.3109/15563650.2010.495348; Ter Haar NM, Oswald M, Jeyaratnam J, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015;74(9):1636-44. doi:10.1136/annrheumdis-2015-207546 110. Swanson KV, Deng M, Ting JP. The NLRP3 inflammasome: molecular activation and regulation to therapeutics. Nat Rev Immunol. 2019;19(8):477-89. doi:10.1038/s41577-019-0165-0
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8Academic Journal
Authors: REVENCO, Ninel, ANDRIES, Lucia, SACARA, Victoria, DORIF, Alexandr, BARBA, Doina, EREMCIUC, Rodica, GAIDARJI, Olga
Source: One Health & Risk Management ; Vol. 1 No. 2 (2020); 68-72 ; Vol 1 Nr 2 (2020); 68-72 ; Том 1 № 2 (2020); 68-72 ; 2587-3466 ; 2587-3458
Subject Terms: autoinflammatory diseases, familial Mediterranean fever, children, maladies auto-inflammatoires, fièvre méditerranée familiale, enfants, аутовоспалительные заболевания, семейная средиземноморская лихорадка, дети
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9
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10
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11Academic Journal
Authors: O. V. Zhelyabina, M. S. Eliseev, M. N. Chikina, О. В. Желябина, М. С. Елисеев, М. Н. Чикина
Source: Modern Rheumatology Journal; Том 12, № 1 (2018); 78-84 ; Современная ревматология; Том 12, № 1 (2018); 78-84 ; 2310-158X ; 1996-7012 ; 10.14412/1996-7012-2018-1
Subject Terms: интерлейкин 1, periodic fever syndromes, familial Mediterranean fever, interleukin-1, периодические лихорадки, семейная средиземноморская лихорадка
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Relation: https://mrj.ima-press.net/mrj/article/view/813/786; Fietta P. Autoinflammatory disease: thehereditary periodic fever syndromes. Acta Biomed. 2004 Aug;75(2):92-9.; Федоров ЕС, Салугина СО, Кузьмина НН. Аутовоспалительные синдромы: что необходимо знать ревматологу. Современная ревматология. 2012;6(2):49-59. [Fedorov ES, Salugina SO, Kuz'mina NN. Autoinflammatory syndromes: What a rheumatologist should know. Sovremennaya revmatologiya = Modern Rheumatology Journal. 2012;6(2): 49-59. (In Russ.)]. doi:10.14412/1996-7012-2012-728.; Simon A, van der Meer JW. Patogenesis of familial periodic fever syndromes or hereditary inflammatory syndromes. Am J Physiol Regul Integr Comp Physiol. 2007 Jan; 292(1):R86-98. Epub 2006 Aug 24.; Toplak N, Frenkel J, Ozen S, et al. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis. 2012 Jul;71(7):1177-82. doi:10.1136/annrheumdis-2011-200549. Epub 2012 Feb 29.; Gattorno M, Tassi S, Carta S, et al. Pattern of interleukin-1b secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum. 2007 Sep;56(9):3138-48. doi:10.1002/art.22842; Насонов ЕЛ, Елисеев МС. Роль интерлейкина 1 в развитии заболеваний человека. Научно-практическая ревматология. 2016;54(1):60-77. [Nasonov EL, Eliseev MS. Role of interleukin 1 in the development of human diseases. Nauchno-prakticheskaya revmatologiya = Rheumatology Science and Practice. 2016;54(1):60-77. (In Russ.)]. doi:10.14412/1995-4484-2016-60-77; Dinarello CA. A clinical perspective of IL-1β as the gatekeeper of inflammation. Eur J Immunol. 2011 May;41(5):1203-17. doi:10.1002/eji.201141550.; Mensa-Vilaro A, Teresa Bosque M, Magri G, et al. Late onset cryopyrin-associated periodic syndrome due to myeloidrestricted somatic NLRP3 mosaicism. Arthritis Rheumatol. 2016 Dec;68(12):3035- 3041. doi:10.1002/art.39770.; Barron K, Athreya B, Kastner D. Periodic fever syndromes and other inherited autoinflammatory diseases. In: Cassidy JT, editor. Textbook of pediatric rheumatology. 6th ed. Elsevier Saunders; 2011. P. 642-60.; Kile RL, Rusk HA. A case of cold urticaria with unusual family history. JAMA. 1940;114:1067-8.; Yamauchi A, Iwata H, Ohnishi H, et al. Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report. Br J Dermatol. 2010 Dec;163(6):1351-3. doi:10.1111/j.1365-2133.2010.09978.x. Epub 2010 Nov 4.; Espandar L, Boehlke CS, Kelly MP. First report of keratitis in familial old autoinflammatory syndrome. Can J Ophthalmol. 2014 Jun;49(3):304-6. doi:10.1016/j.jcjo.2014.01.007.; Gerbig AW, Dahinden CA, Mullis P, Hunziker T. Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis? QJM. 1998 Jul;91(7): 489-92.; Dode C, Le Du N, Cuisset L, et al. New mutations of CIAS that are responsible for Muckle- Wells syndrome and familial cold urticaria: a novel mutation underlies both syndrome. Am J Hum Genet. 2002 Jun;70(6): 1498-506. Epub 2002 Apr 25.; Салугина СО, Федоров ЕС, Кузьмина НН. Современные подходы к диагностике, лечению и мониторингу пациентов с криопирин-ассоциированными периодическими синдромами (CAPS). Современная ревматология. 2016;10(2):4-11. [Salugina SO, Fedorov ES, Kuz'mina NN. Current approaches to diagnosis, treatment, and monitoring in patients with cryopyrinassociated periodic syndromes (CAPS). Sovremennaya revmatologiya = Modern Rheumatology Journal. 2016;10(2):4-11. (In Russ.)]. DOI:10.14412/1996-7012-2016-2-4-11.; Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, et al. Hearing loss in Muckle- Wells syndrome. Arthritis Rheum. 2013 Mar;65(3):824-31. doi:10.1002/art.37810.; Lieberman A, Grossman ME, Silvers DN. Muckle-Wells syndrome: case report and review of cutaneous pathology. J Am Acad Dermatol. 1998 Aug;39(2 Pt 1):290-1.; Goldbach-Mansky R, Daily NJ, Canna SW, et al. Neonatal-Onset Mutisystem Inflammatory Disease Responsive to Interleukine-1 Inhibition. N Engl J Med. 2006 Aug 10;355(6):581-92.; Goldbach-Mansky R, Shroff SD, Wilson M, et al. A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome. Arthritis Rheum. 2008 Aug;58(8): 2432-42. doi:10.1002/art.23620.; Lachmann H, Kone-Paut I, Kuemmerle-Deschner GB, et al. for the Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009 Jun 4;360(23):2416-25. doi:10.1056/NEJMoa0810787.; Simon A, Drewe E, van der Meer JW. Simvastatin Treatment for Inflammatory Attacks of the Hyperimmunoglobulinemia D and Periodic Fever Syndrome. Simvastatin Treatment for Inflammatory Attacks of the Hyperimmunoglobulinemia D and Periodic Fever Syndrome. Clin Pharmacol Ther. 2004 May;75(5):476-83.; Van der Meer JW, Vossen JM, Radl J, et al. Hyperimmunoglobulinemia D and periodic fever: a new syndrome. Lancet. 1984 May 19; 1(8386):1087-90.; Haas D, Hoffmans GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006 Apr 26;1:13.; Arostegui JI, Anton J, Calvo I, et al. Open-Label, Phase II Study to Assess the Efficacy and Safety of Canakinumab Treatment in Active Hyperimmunoglobulinemia D With Periodic Fever Syndrome. Arthritis Rheumatol. 2017 Aug;69(8):1679-1688. doi:10.1002/art.40146. Epub 2017 Jul 5.; Grateau G. Clinical and genetic aspects of the hereditary periodic fever syndromes. Rheumatology (Oxford). 2004 Apr;43(4):410-5. Epub 2004 Feb 24.; Kuijk LM, Hoffman HL, Neven B, Frenkel J. Episodic autoinflammatory disorders in children. In: Cimas R, Lehman T, editors. Handbook of Systemic Autoimmune Disease. Vol. 6 Pediatrcs in Systemic Autoimmune Disease. Elselvier; 2008. P. 119-35.; Kusuhara K, Nomura A, Nakao F, Hara T. Tumor necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. Eur J Pediatr. 2004 Jan;163(1):30-2. Epub 2003 Nov 11.; Drenth G, van der Meer JW. Hereditary Periodic fever. N Engl J Med. 2001 Dec 13; І345(24):1748-57.; Gattorno M, Obici L, Cattalini M, et al. Canakinumab treatment for patients with active recurrent or chronic TNF receptorassociated periodic syndrome (TRAPS an op label, phase II study. Ann Rheum Dis. 2017 Jan; 76(1):173-178. doi:10.1136/annrheumdis-2015-209031. Epub 2016 Jun 7.; La Torre F, Caparello MC, Cimaz R. Canakinumab for the treatment of TNF-receptor associated periodic syndrome. Expert Rev Clin Immunol. 2017 Jun;13(6):513-523. doi:10.1080/1744666X.2017.1324783.; Drenth G, van der Meer JW. Hereditary Periodic fever. N Engl J Med. 2001 Dec 13; 345(24):1748-57.; Федоров ЕС, Салугина СО, Кузьмина НН. Семейная средиземноморская лихорадка (периодическая болезнь): современный взгляд на проблему. Современная ревматология. 2013;7(1):24-30. [Fedorov ES, Salugina SO, Kuz'mina NN. Familial Mediterranean fever (a periodic disease): The present-day view of the problem. Sovremennaya revmatologiya = Modern Rheumatology Journal. 2013;7(1):24-30. (In Russ.)]. doi:10.14412/1996-7012-2013-2363.; Арутюнян ВМ, Акопян ГС. Периодическая болезнь (этиопатогенетические и клинические аспекты). Москва: МИА; 2000. [Arutyunyan VM, Akopyan GS. Periodicheskaya bolezn' (etiopatogeneticheskie i klinicheskie aspekty) [Periodic disease (etiopathogenetic and clinical aspects)]. Moscow: MIA; 2000.]; Kalinich T, Haffer D, Niehues T, et al. Colchicine Use in Children and Adolescents With Familial Mediterranean Fever. Literature Review and Consensus Statement. Pediatrics. 2007 Feb;119(2):e474-83. Epub 2007 Jan 22.; Алекберова ЗС, Барскова ВГ. Колхицин в ревматологии – вчера и сегодня. Будет ли завтра? Современная ревматология. 2010;4(2):25-9. [Alekberova ZS, Barskova VG. Colchicine in rheumatology: yesterday and today. Will there be tomorrow? Sovremennaya revmatologiya = Modern Rheumatology Journal. 2010;4(2):25-9. (In Russ.)]. DOI:10.14412/1996-7012-2010-598.; Ozen S. Familial mediterranean fever: revisiting an ancient disease. Eur J Pediatr. 2002 Aug;161(8):449-54. Epub 2002 Jun 28.; Frenkel J, Kuijk L, Hofhuis W, et al. Anakinra in colchicin resistant Familial Mediterranean Fever in 14th European Paediatric Rheumatology Congress. Sept. 5-9, 2007. Istanbul. Abstr book:252.; Metyas S, Arkfeld DG, Forrester DM, Ehresmann GR. Infliximab treatment of Familial Mediterranean Fever and its effect to secondary AA amyloidosis. J Clin Rheumatol. 2004 Jun;10(3):134-7.; Аствацатрян ВА, Торосян ЕХ. Периодическая болезнь у детей. Ереван: Айастан; 1989. [Astvatsatryan VA, Torosyan EKh. Periodicheskaya bolezn' u detei [Periodic disease in children]. Erevan: Aiastan; 1989.]; Akar S, Cetin P, Kalyoncu U. A Nationwide Experience With The Off-label Use of Interleukin-1 Targeting Treatment in Familial Mediterranean Fever Patients. Arthritis Care Res (Hoboken). 2017 Oct 9. doi:10.1002/acr.23446. [Epub ahead of print].; Ter Haar N, Lachmann H, Еzen S, et al. Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/ Eurotraps ProjectsTreatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis. 2013 May;72(5):678-85. doi:10.1136/annrheumdis-2011-201268. Epub 2012 Jun 29.; Ter Haar NM, Oswald M, Jeyaratnam J, et al. Recommendations for the management of autoinflammatory diseases. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015 Sep;74(9): 1636-44. doi:10.1136/annrheumdis-2015-207546. Epub 2015 Jun 24.; De Benedetti F, Anton J, Gattorno M, et al. A Phase III, Pivotal, Umbrella Trial of Canakinumab in Patients With Auto-inflammatory Periodic Fever Syndromes (Colchicine- Resistant FMF, HIDS/MKD and TRAPS). Annals of the Rheumatic Diseases. 2016;75:615-6.; Lachmann H, Simon A, Anton J, et al. FRI0489 Canakinumab Improves Patient Reported Outcomes in Patients with Periodic Fever Syndromes. Annals of the Rheumatic Diseases. 2016;75:616.; Yildirim T, Yilmaz R, Uzerk Kibar M, Erdem Y. Canakinumab treatment in renal transplant recipients with familial Mediterranean fever. J Nephrol. 2018 Feb 14. doi:10.1007/s40620- 018-0475-5. [Epub ahead of print].
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12Academic Journal
Authors: S. A. Atoyan, С. А. Атоян
Source: Medical Genetics; Том 15, № 3 (2016); 3-11 ; Медицинская генетика; Том 15, № 3 (2016); 3-11 ; 2073-7998
Subject Terms: colchicine, Семейная Средиземноморская лихорадка, ген MEFV, колхицин, Hereditary Periodic fevers, Familial Mediterranean fever, MEFV gene
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Relation: https://www.medgen-journal.ru/jour/article/view/99/87; Sanchez GAM, de Jesus AA, Goldbach-Mansky R. Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation. Rheum Dis Clin North Am. 2013;39(4):701-734. doi:10.1016/j.rdc.2013.08.001.; Kastner DL. Hereditary periodic fever syndromes. Hematology Am Soc Hematol Educ Program. 2005;2005(1):74-81. doi:10.1182/asheducation-2005.1.74.; Canna SW, de Jesus AA, Gouni S, et al. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet. 2014;46(10):1140-1146. doi:10.1038/ng.3089.; Shinar Y, Obici L, Aksentijevich I, T.Sarkisian, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis. 2012;71(10):1599-1605. doi:10.1136/annrheumdis-2011-201271.; Livneh A, Ben-Zvi I. Pearls from the Third Israeli Conference on FMF, other autoinflammatory disorders and AA amyloidosis. Isr Med Assoc J. 2014;16(5):269-270. http://www.ncbi.nlm.nih.gov/pubmed/24979827.; Touitou I, Galeotti C, Rossi-Semerano L, Hentgen V, Piram M, Kone-Paut I. The expanding spectrum of rare monogenic autoinflammatory diseases. Orphanet J Rare Dis. 2013;8:162. doi:10.1186/1750-1172-8-162.; Siegal S. Benign paroxysmal peritonitis. Ann Intern Med. 1945;23(1):1. doi:10.7326/0003-4819-23-1-1.; Ben-Chetrit E, Touitou I. Familial mediterranean Fever in the world. Arthritis Rheum. 2009;61(10):1447-1453. doi:10.1002/art.24458.; Sarkisian T, Hayrapetyan H, Beglaryan A, Shahsuvaryan G, Yeghiazaryan A. Molecular diagnosis of familial mediterranean fever in armenians. NEW Armen Med J Vol. 1 (2007), N1, pp33-40. 2007;1:33-40.; ISSAID - The International Society of Systemic Auto-Inflammatory Diseases. http://fmf.igh.cnrs.fr/ISSAID/index.php. Accessed July 22, 2015.; Stoffman N, Magal N, Shohat T, et al. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet 8, 307-310. 2000;(June 1999):307-310.; Mattit H, Joma M, Al-Cheikh S, et al. Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet. 49(6):481-486. doi:10.1016/j.ejmg.2006.03.002.; Majeed HA, El-Shanti H, Al-Khateeb MS, Rabaiha ZA. Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum. 2002;31(6):371-376. http://www.ncbi.nlm.nih.gov/pubmed/12077709. Accessed November 24, 2014.; Kishida D, Nakamura A, Yazaki M, Tsuchiya-Suzuki A, Matsuda M, Ikeda S-I. Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. Arthritis Res Ther. 2014;16(5):439. doi:10.1186/s13075-014-0439-7.; Pagava K, Rauscher B, Korinteli IA, Shonvadze D, Kriegshauser G, Oberkanins C. Familial Mediterranean fever in Georgia. Georgian Med News. 2014;(230):79-82. http://www.ncbi.nlm.nih.gov/pubmed/24940862. Accessed June 14, 2015.; Sarkisian T, Ajrapetian H, Beglarian A, Shahsuvarian G, Egiazarian A. Familial Mediterranean Fever in Armenian population. Georgian Med News. 2008;(156):105-111. http://www.ncbi.nlm.nih.gov/pubmed/18403822. Accessed August 23, 2014.; Jeru I, Duquesnoy P, Fernandes-Alnemri T, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008;105(5):1614-1619. doi:10.1073/pnas.0708616105.; Jeru I, Hayrapetyan H, Duquesnoy P, Sarkisian T, Amselem S. PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation. Arthritis Rheum. 2006;54(2):508-514. doi:10.1002/art.21618.; Hentgen V, Grateau G, Stankovic-Stojanovic K, Amselem S, Jeru I. Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children? Arthritis Rheum. 2013;65(6):1654-1662. doi:10.1002/art.37935.; Ben-Zvi I, Herskovizh C, Kukuy O, Kassel Y, Grossman C, Livneh A. Familial Mediterranean fever without MEFV mutations: a case-control study. Orphanet J Rare Dis. 2015;10(1):34. doi:10.1186/s13023-015-0252-7.; Ben-Chetrit E, Peleg H, Aamar S, Heyman SN. The spectrum of MEFV clinical presentations-is it familial Mediterranean fever only? Rheumatology (Oxford). 2009;48(11):1455-1459. doi:10.1093/rheumatology/kep296.; Rubartelli A. Autoinflammatory diseases. Immunol Lett. 2014;161(2):226-230. doi:10.1016/j.imlet.2013.12.013.; Moll M, Kuemmerle-Deschner JB. Inflammasome and cytokine blocking strategies in autoinflammatory disorders. Clin Immunol. 2013;147(3):242-275. doi:10.1016/j.clim.2013.04.008.; Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20(3):319-325. http://www.ncbi.nlm.nih.gov/pubmed/15030775. Accessed January 5, 2016.; Mansfield E, Chae JJ, Komarow HD, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood. 2001;98(3):851-859. http://www.ncbi.nlm.nih.gov/pubmed/11468188. Accessed December 30, 2015.; 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(4):797-807. doi:10.1016/S0092-8674(00)80539-5.; A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25-31. doi:10.1038/ng0997-25.; Grandemange S, Aksentijevich I, Jeru I, Gul A, Touitou I. The regulation of MEFV expression and its role in health and familial Mediterranean fever. Genes Immun. 2011;12(7):497-503. doi:10.1038/gene.2011.53.; Ben-Zvi I, Livneh A. Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol. 2011;7(2):105-112. doi:10.1038/nrrheum.2010.181.; Lachmann HJ, Sengul B, Yavuzsen TU, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford). 2006;45(6):746-750. doi:10.1093/rheumatology/kei279.; Yang R-Z, Lee M-J, Hu H, et al. Acute-phase serum amyloid A: an inflammatory adipokine and potential link between obesity and its metabolic complications. PLoS Med. 2006;3(6):e287. doi:10.1371/journal.pmed.0030287.; Yamada T, Okuda Y, Takasugi K, et al. An allele of serum amyloid A1 associated with amyloidosis in both Japanese and Caucasians. Amyloid. 2003;10(1):7-11. http://www.ncbi.nlm.nih.gov/pubmed/12762135. Accessed April 11, 2016.; Jeru I, Sarkisian T, Hayrapetyan H, Duquesnoy P, et al. Involvement of the modifier gene of a human Mendelian disorder in a negative selection process. PLoS One. 2009;4(10):e7676. doi:10.1371/journal.pone.0007676.; Cazeneuve C, Sarkisian T, Ajrapetyan H, Papin S, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet. 2000;67(5):1136-1143. doi:10.1016/S0002-9297(07)62944-9.; Medlej-Hashim M, Delague V, Chouery E, et al. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med Genet. 2004;5(1):1. doi:10.1186/1471-2350-5-4.; Soriano A, Verecchia E, Afeltra A, Landolfi R, Manna R. IL-1b biological treatment of familial Mediterranean fever. Clin Rev Allergy Immunol. 2013;45(1):117-130. doi:10.1007/s12016-013-8358-y.; Caso F, Cantarini L, Lucherini OM, et al. Working the endless puzzle of hereditary autoinflammatory disorders. Mod Rheumatol. 2014;24(3):381-389. doi:10.3109/14397595.2013.843755.; Tamir N, Langevitz P, Zemer D, et al. Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics. Am J Med Genet. 1999;87(1):30-35. http://www.ncbi.nlm.nih.gov/pubmed/10528243. Accessed December 13, 2014.; Samuels J, Aksentijevich I, Torosyan Y, 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(4):268-297. http://www.ncbi.nlm.nih.gov/pubmed/9715731. Accessed September 20, 2014.; Ben-Zvi I, Brandt B, Berkun Y, Lidar M, Livneh A. The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever (FMF). Gene. 2012;491(2):260-263. doi:10.1016/j.gene.2011.10.005.; Berkun Y, Ben-Chetrit E, Klar A, Ben-Chetrit E. Peritoneal adhesions and intestinal obstructions in patients with familial Mediterranean fever - are they more frequent? Semin Arthritis Rheum. 2007;36(5):316-321. doi:10.1016/j.semarthrit.2006.11.002.; Г.Г. Амарян, К.Г. Мирзабекян, С.Г. Казарян, А.С. Баблоян. Клинико-генетическая характеристика спаечной кишечной непроходимости при периодической болезни у детей. http://www.medlib.am/articles/Amaryan(HB-09-4).pdf. Accessed March 12, 2014.; Karban A, Dagan E, Eliakim R, et al. Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn’s disease. Genes Immun. 2005;6(2):134-139. doi:10.1038/sj.gene.6364156.; Sever F, Sever M, Sanal S, Yalсэn M, Berdeli A. [Familial Mediterranean fever with pulmonary manifestations alone; early diagnosis with genetic analysis]. Tuberk Toraks. 2012;60(4):380-384. http://www.ncbi.nlm.nih.gov/pubmed/23289470. Accessed September 20, 2014.; Salah S, Hegazy R, Ammar R, Sheba H, Abdelrahman L. MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study. Pediatr Rheumatol Online J. 2014;12:5. doi:10.1186/1546-0096-12-5.; Altug U, Ensari C, Sayin DB, Ensari A. MEFV gene mutations in Henoch-Schоnlein purpura. Int J Rheum Dis. 2013;16(3):347-351. doi:10.1111/1756-185X.12072.; Barzilai A, Langevitz P, Goldberg I, et al. Erysipelas-like erythema of familial Mediterranean fever: Clinicopathologic correlation. J Am Acad Dermatol. 2000;42(5):791-795. doi:10.1067/mjd.2000.103048.; Peleg H, Ben-Chetrit E. The kidney in familial Mediterranean fever. J Rheumatol. 2013;40(12):1948-1950. doi:10.3899/jrheum.131135.; Gharabaghi MA, Behdadnia A, Gharabaghi MA, Abtahi H. Hypoadrenal syndrome in a patient with amyloidosis secondary to familial Mediterranean fever. BMJ Case Rep. 2013;2013. doi:10.1136/bcr-2012-007991.; Jarjour RA, Dodaki R. Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation. Mol Biol Rep. 2011;38(3):2033-2036. doi:10.1007/s11033-010-0326-5.; Alayli G, Durmus D, Ozkaya O, Sen HE, Genc G, Kuru O. Frequency of juvenile fibromyalgia syndrome in children with familial Mediterranean fever: effects on depression and quality of life. Clin Exp Rheumatol. 29(6 Suppl 69):S127-S132. http://www.ncbi.nlm.nih.gov/pubmed/22243560. Accessed September 21, 2014.; Mattiassich G, Semlitsch G, Nadler K, Rainer F. Familial Mediterranean fever without fever as a cause of monoarthritis. BMJ Case Rep. 2013;2013. doi:10.1136/bcr-2012-008395.; Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial mediterranean fever. Arthritis Rheum. 1997;40(10):1879-1885. doi:10.1002/art.1780401023.; Demirkaya E, Acikel C, Gul A, et al. Developing a new severity score for FMF. Pediatr Rheumatol. 2013;11(Suppl 1):A81. doi:10.1186/1546-0096-11-S1-A81.; Mor A, Shinar Y, Zaks N, et al. Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum. 2005;35(1):57-64. doi:10.1016/j.semarthrit.2005.02.002.; Саркисян ТФ, Айрапетян АС, Шахсуварян ГР Молекулярная диагностика семейной средиземноморской лихорадки ( периодической болезни ) среди армян. Новый армянский медицинский журнал. 2007;1. http://www.ysmu.am/images/stories/downloads/NAMJ/Int%20v1n1/Rus/4.pdf; Cazeneuve C, Sarkisian T, Pкcheux C, 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(1):88-97. doi:10.1086/302459.; Ben-Chetrit E, Levy M. Colchicine: 1998 update. Semin Arthritis Rheum. 1998;28(1):48-59. doi:10.1016/S0049-0172(98)80028-0.; Lidar M, Yonath H, Shechter N, et al. Incomplete response to colchicine in M694V homozygote FMF patients. Autoimmun Rev. 2012;12(1):72-76. doi:10.1016/j.autrev.2012.07.025.; La Regina M, Ben-Chetrit E, Gasparyan AY, Livneh A, Ozdogan H, Manna R. Current trends in colchicine treatment in familial Mediterranean fever. Clin Exp Rheumatol. 31(3 Suppl 77): 41-46. http://www.ncbi.nlm.nih.gov/pubmed/24064013. Accessed January 19, 2015.; Unverdi S, Inal S, Ceri M, et al. Is colchicine therapy effective in all patients with secondary amyloidosis? Ren Fail. 2013;35(8):1071-1074. doi:10.3109/0886022X.2013.811345.; Estublier C, Stankovic Stojanovic K, Bergerot J-F, Broussolle C, Sиve P. Myositis in a patient with familial Mediterranean fever and spondyloarthritis successfully treated with anakinra. Joint Bone Spine. 2013;80(6):645-649. doi:10.1016/j.jbspin.2013.03.004.; Ozkurede VU, Franchi L. Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes. 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13Academic Journal
Authors: ПЕПОЯН А.З., БАЛАЯН М.А., АРУТЮНЯН Н.А., ГРИГОРЯН АШХЕН ГРИГОРЬЕВНА, ТЦАТУРЯН В.В., МАНВЕЛЯН А.М., ДИЛАНЯН Е., ПИЦЕНО И., ТОРОК Т.
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14Academic Journal
Authors: ПЕПОЯН АСТГИК ЗАВЕНОВНА, АРУТЮНЯН Н., ГРИГОРЯН А., ЦАТУРЯН В.В., МАНВЕЛЯН А.М., ДИЛАНЯН Е., БАЛАЯН М.А., ТОРОК Т.
Subject Terms: СЕМЕЙНАЯ СРЕДИЗЕМНОМОРСКАЯ ЛИХОРАДКА, С-РЕАКТИВНЫЙ БЕЛОК, ЛАКТАЗНАЯ АКТИВНОСТЬ
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15Academic Journal
Authors: G. M. Mkrtchyan, L. P. Hovhannisyan, A. A. Ayvazyan, E. Y. Nazaretyan, A. S. Boyajyan, Г. М. Мкртчян, Л. П. Оганесян, А. А. Айвазян, Э. Е. Назаретян, А. С. Бояджян
Source: Medical Immunology (Russia); Том 11, № 1 (2009); 85-90 ; Медицинская иммунология; Том 11, № 1 (2009); 85-90 ; 2313-741X ; 1563-0625 ; 10.15789/1563-0625-2009-1
Subject Terms: семейная средиземноморская лихорадка, classic complement pathway, familial mediterranean fever, классический путь комплемента
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Relation: https://www.mimmun.ru/mimmun/article/view/221/223; Akcan Y., Bayraktar Y., Arslan S., VanThiel D.H., Zerrin B.C., Yildiz O. The importance of serial measurements of cytokine levels for the evaluation of their role in pathogenesis in familial Mediterraean fever//Eur J Med Res. -2003. -Vol. 8. -P. 304-306.; Ayesh S.K., Azar Y., Babior B.M., Matzner Y. Inactivation of Interleukin-8 by the CSa-Inactivating Protease From Serosal Fluid//Blood. -1993. -Vol. 81, N 6. -P. 1424-1427.; Ben-Chetrit E., Backenroth R., Haimov-Kochman R., Pizov G. Azoospermia in familial Mediterranean fever patients: the role of colchicine and amyloidosis//Ann Rheum Dis. -1998. -Vol. 57, N 4. -P. 259-260.; Ben-Chetrit E., Familial Mediterranean fever (FMF) and renal AA amyloidosis. Phenotype-genotype correlation, treatment and prognosis//J. Nefrol. -2003. -Vol. 16. -P. 431-434.; Ben-Chetrit E., Levy M. Colchicine update -1998//Semin Arthritis Rheum. -1998. -Vol. 28. -P. 48-59.; Ben-Chetrit E., Levy M. Familial Mediterranean fever//Lancet. -1998. -Vol. 351. -P. 659-664.; Bíró A., Rovó Z., Papp D., Cervenak L., Varga L., F st G., Thielens N.M., Arlaud G.J., Prohászka Z. Studies on the interactions between C-reactive protein and complement proteins//Immunology. -2007. -Vol. 121, N 1. -P. 40-50.; Cerquaglia C., Diaco M., Nucera G., La Regina M., Montalto M., Manna R. Pharmacological and clinical basis of treatment of Familial Mediterranean fever (FMF) with colchicine or analogues: an update//Curr. Drug. Targets Inflamm. Allergy. -2005. -Vol. 4, N 1. -P. 117-124.; French FMF Consortium. A candidate gene for familial Mediterranean fever//Nat. Genet. -1997. -Vol. 17. -P. 25-31.; Gang N., Drenth J.P., Langevitz P. Activation of the cytokine network in familial Mediterranean fever//J. Rheumatol. -1999. -Vol. 26. -P. 890-897.; Goldfinger S.E. Colchicine for familial Mediterranean fever//N. Engl. J. Med. -1972. -Vol. 287. -P. 1302.; Holers V.M. The complement system as a therapeutic target in autoimmunity//Clin. Immunol. -2003. -Vol. 107, N 3. -P. 140-151.; International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever//Cell. -1997. -Vol. 90. -P. 797-807.; Korkmaz C., Ozdogan H., Kasapcopur O.,Yazici H. Acute phase response in familial Mediterranean fever//Ann. Rheum. Dis. -2002. -Vol. 61, N 1. -P. 79-81.; Le G.T., Abbenante G., Fairlie D.P. Profiling the enzymatic properties and inhibition of human complement factor B//J. Biol. Chem. 2007. -Vol. 282, N 48. -P. 34809-34816.; Lidar M., Scherrman J.M., Shinar Y., Chetrit A., Niel E., Gershoni-Baruch R., Langevitz P., Livneh A. Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization//Semin. Arthritis Rheum. -2004. -Vol. 33, N 4. -P. 273-282.; Linneh A., Langevitz P., Zemer D., Zaks N., Kees S., Lidar T. Criteria for the diagnosis of familial Mediterranean fever//Arthritis Rheum. -1997. -Vol. 40. -P. 1879-1885.; Matzner Y., Abedat S., Shapiro E., Eisenberg S., Bar-Gil-Shitrit A., Stepensky P., Calco S., Azar Y.,Urieli-Shoval S. Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures//Blood. -2000. -Vol. 96, N 2. -P. 727-731.; Medlej-Hashim M., Loiselet J., Lefranc G.,Megarbane A. Familial Mediterranean fever (FMF): from diagnosis to treatment//Sante. -2004. -Vol. 14, N 4. -P. 261-266.; Melamed A., Cabili S., Zakuth V., Spirer Z. The immune regulation in familial Mediterranean fever//J. Clin. Lab. Immunol. -1988. -Vol. 26. -P. 125-128.; Mйry J.P., Kenouch S. Familial Mediterranean fever associated amyloidosis//Renal Failure. -1993. -Vol. 15. -P. 379-384.; Mkrtchyan G.M., Boyajyan A.S.,Ayvazyan A.A., Beglaryan A.A. Classical pathway complement activity in Familial Mediterranean fever//Clin. Biochem. -2006. -Vol. 39, N 7. -P. 688-691.; Mkrtchyan G.M., Boyajyan A.S.,Karageuzyan K.G., Ayvazyan A.A., Pashinyan S.H., Nazaretyan E.Ye. Protein composition of circulating immune complexes in patients with Periodic disease complicated or not complicated by renal amyloidosis//Dokl. Biol. Sci. -2002. -Vol. 385. -P. 329-330.; Mollnes T.E., Song W.-C., Lambris J.D. Complement in inflammatory tissue damage and disease//Trends Immunol. Today. -2002. -Vol. 23, N2. -P. 61-66.; Morgan B.P. Measurement of complement hemolytic activity, generation of complement-depleted sera, and production of hemolytic intermediates//Methods in Molecular Biology. Complement Methods and Protocols/Ed. Morgan B.P. -Humana Press, 2000. -P. 61-71.; Odabas A.R., Cetinkaya R., Selcuk Y., Keles S., Bilen H. Serum C-reactive protein levels during attack-free periods of familial Mediterranean fever//The Pain Clinic -2002. -Vol. 13, N 4. -P. 319-321.; Schattner A., Lachmi M., Livneh A., Pras M., Hahn T. Tumor necrosis factor in familial Mediterranean fever//Am. J. Med. -1991. -Vol. 90. -P. 434-438.; Sj berg A.P., Trouw L.A., McGrath F.D.,Hack C.E., Blom A.M. Regulation of complement activation by C-reactive protein: targeting of the inhibitory activity of C4b-binding protein//J. Immunol. -2006. -Vol. 176, N 12. -P. 7612-7620.; Szalai A.J., van Ginkel F.W., Wang Y., McGhee J.R., Volanakis J.E. Complement-dependent acute-phase expression of C-reactive protein and serum amyloid P-component//J. Immunol. -2000. -Vol. 165, N 2. -P. 1030-1035.; Van Oss C.J. The human complement system in health and disease//Marcel Decker. Inc., 1998.; Vinceneux P., Pouchot J. Maladie pйriodique, symptomatologie clinique et biologique//Presse Med.-2005. -Vol. 34, N 13. -P. 938-946.; Whaley K., North J. Haemolytic assays for whole complement activity and individual components//Complement. A Practical Approach/Ed. Doods A.W., Sim R.B. -Oxford University Press, 1997. -P. 9-47.; Yalinkaya F., Cakar N., Acar B., Tutar E., Guriz H., Elhan A.N., Ozturk S., Kansu A.; Ince E., Atalay S., Girgin N., Dogru U., Aysev D., Ekim M. The value of the levels of acute phase reactants for the prediction of familial Mediterranean fever associated amyloidosis: a case control study//Rheumatol. Int.-2007. -Vol. 27, N 6. -P. 517 -522.; https://www.mimmun.ru/mimmun/article/view/221
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16Academic Journal
Authors: НЕДЕЛЬСКАЯ С.Н., ЖИЛЕНКО И.А., МЕРЕЖКО А.С., ШАПРАН А.В.
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17Academic Journal
Authors: Шамов, Ибрагим
Subject Terms: СЕМЕЙНАЯ СРЕДИЗЕМНОМОРСКАЯ ЛИХОРАДКА, КЛИНИКА, ДИАГНОСТИКА, ЛЕЧЕНИЕ
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18Academic Journal
Authors: Шиляев, Р., Копилова, Е., Харитонова, Е., Менагаришвили, И.
Subject Terms: ДЕТИ, АУТОВОСПАЛИТЕЛЬНЫЕ СИНДРОМЫ, РЕЦИДИВИРУЮЩАЯ ЛИХОРАДКА, СЕМЕЙНАЯ СРЕДИЗЕМНОМОРСКАЯ ЛИХОРАДКА
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19Academic Journal
Authors: Федоров, Евгений, Салугина, С., Кузьмина, Н.
Subject Terms: СЕМЕЙНАЯ СРЕДИЗЕМНОМОРСКАЯ ЛИХОРАДКА, АУТОВОСПАЛИТЕЛЬНЫЕ ЗАБОЛЕВАНИЯ, МОНОГЕННЫЕ НАСЛЕДСТВЕННЫЕ ЗАБОЛЕВАНИЯ, КОЛХИЦИН
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20Academic Journal
Authors: Hambardzumyan, S.
Subject Terms: СЕМЕЙНАЯ СРЕДИЗЕМНОМОРСКАЯ ЛИХОРАДКА, КАРДИОПАТИЧЕСКИЙ АМИЛОИДОЗ, МОРФОЛОГИЯ, ИНФАРКТ МИОКАРДА
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