Vnitřní lékařství 3/2020

PŘEHLEDOVÉ ČLÁNKY Čo sa skrýva za autoinflamáciou? | E21  / Vnitř Lék 2020; 66(3): e13–e21 /  VNITŘNÍ LÉKAŘSTVÍ www.casopisvnitrnilekarstvi.cz 13. Caryol C, Girard JP. The IL-1 like cytokine IL-33 is inactivated after maturation by capsa- se-1. Proc Natl Acad Sci USA 2009; 106: 9021–9026. 14. Fink SL, Cookson BT. Caspase-1-dependent pore formation during pyroptosis leads to osmotic lysis of infected host macrophages. Cell Microbiol 2006; 8: 1812–1825. 15. Shao W, Yeretssian G, Doiron K et al. The caspase-1 digestome identifies the glycolysis pathway as a target during infection and septic shock. J Biol Chem 2007; 282: 36321–36329. 16. Gurcel L, Abrami L, Girardin S, et al. Caspase-1 activation of lipid metabolic pathway in response to bacterial pore‑forming toxins promotes cell survival. Cell 2006; 126: 1135–1145. 17. Bergsbaken T, et al. Pyroptosis: Host cell death and inflammation. Nat Rev Microbiol 2009; 7: 99–109. 18. Miao EA, et al. Caspase-1-induced pyroptosis in an innate immune effector mecha- nism against intracellular bacteria. Nat Immunol 2010; 11: 1136–1142. 19. Pétrilli V, Papin S, Dostert C, et al. Activation of the NALP3 inflammasome is triggered by low intracellular potassium concentration. Nature 2007; 14: 1583–1589. 20. Thomas PG, Dash P, Aldridge JR, et al. The intracellular sensor NLRP3 mediates key innate and healing responses to influenza A virus via the regulation of caspase-1. Immu- nity 2009; 30: 566–575. 21. Duncan JA, Gao X, Huang MT, et al. Neisseria gonorrhoeae activates the proteinase cathepsin B to mediate the signaling activities of the NLRP3 and ASC‑containing inflamma- some. J Immunol 2009; 182: 6460–6469. 22. Mariathasan S, Newton K, Monack D et al. Differential activation of the inflammasome by caspase-1 adaptors ASC and Ipaf. Nature 2004; 430: 213–218. 23. Martinon F, Pétrilli V, Mayor A, et al. Gout‑associated uric acid crystals activate the NALP3 inflammasome. Nature 2006; 440: 237–241. 24. Yazdi AS, Guarda G, Riteau N, et al. Nanoparticles activate the NLR pyrin domain con- taining 3 (Nlrps3) inflammasome and cause pulmonary inflammation through release of IL-1α and IL-1β. Proc Natl Acad Sci USA 2010; 107: 19449–19454. 25. Stutz A, Golenbock DT, Latz E. Inflammasomes: too big to miss. J Clin Invest 2009; 119: 3502-3511. 26. Šedivá A, Horváth R, Maňásek V, et al. Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic. Clin Genet 2014; 86: 564–569. 27. Dallos T, Gálová LL, Macejková E, et al. Familial Mediterranean Fever – first experiences in Slovakia. Vnitř Lék 2014; 60: 80–85. 28. Dallos T, Ilenčíková D, Kovács L. Familial Mediterranean Fever – clinical picture, diagno- sis and treatment. Vnitř Lék 2014; 60: 30–37. 29. Król P, Doležalová P. Recidivující febrilie u dětí. Pediatr Praxi 2013; 14: 221–224. 30. Sari I, Birlik M, Kasifoglu T. Familial Mediterranean Fever – An updated review. Eur J Rheum 2014; 1: 21–33. 31. Jeseňák M, Hrubišková K, Kapustová L, et al. Canakinumab as monotherapy for tre- atment of familial Mediterranean fever - first report in Central and Eastern Europe region. Bratisl Med J 2018; 119: 198–200. 32. Drewe E, et al. Prospective study of anti‑tumour necrosis factor superfamily 1 B fusi- on protein, and case study of anti‑tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheuma- tology 2003; 42: 235–239. 33. Nigrovic PA. Cryopyrin‑Associated periodic syndromes and related disorders. www. uptodate.com, 2016 34. Majeed HA, Kalaawi M, Mohanty D, et al. Congenital dyserythropoietic anemia and chronic reccurent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr 1989; 115: 730–734. 35. Cheung MS, Theodoropoulou K, Lugrin J, et al. Periodic Fever with Aphtous Stomati- tis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with CARD8 Variant Unable To Bind the NLRP3 Inflammasome. J Immunol 2017; 198: 2063–2069. 36. MarshallGS,EdwardsKM,LawtonARPFAPAsyndrome.Pediatr InfectDisJ1989;8:658–659. 37. Thomas KT, Feder HM, Lawton AR, et al. Periodic fever syndrome in children. J Pedi- atr 1999; 135: 15–21. 38. Hofer M, Cochard M, Anton J, et al. PFAPA (periodic fever, oral aphtae, pharyngitis and cervical adenitis) syndrome: a new consensus on diagnostic criteria. Ann Rheum Dis 2009; 68: (Suppl. 3): 705. 39. Jeseňák M, Kapustová L, Škereňová M, et al. PFAPA syndróm a klinický imunológ. Kli- nická imunológia a alergológia 2016; 3: 11–15. 40. Federici S, Sormani MP, Ozen S, et al. Evidence‑based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis 2015; 74: 799. 41. Cuisset L, Jeru I, Dumont B, et al. Mutation in the autoinflammatory cryopyrin‑associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis 2011; 70: 495. 42. Toplak N, Doležalová P, Constantin T, et al. Periodic Fever syndromes in Eastern and Central European countries: result of a pediatric multinational survey. Pediatric Rheuma- tology 2010; 8: 29. 43. Toplak N, Frenkel J, Ozen S, et al. An international registry on autoinflammatory disea- ses: the Eurofever experience. Ann Rheum Dis 2012; 71: 1177–1182. 44. Shinar, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis 2012; 71: 1599–1605.