Autoinflammatory conditions: when to suspect? How to treat?
Tài liệu tham khảo
McDermott, 1999, Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1, define afamily of dominantly inherited autoinflammatory syndromes, Cell, 97, 133, 10.1016/S0092-8674(00)80721-7
Masters, 2009, Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease, Annu Rev Immunol, 27, 621, 10.1146/annurev.immunol.25.022106.141627
Jeru, 2008, Mutations in NALP12 cause hereditary periodic fever syndromes, Proc Natl Acad Sci USA, 105, 1614, 10.1073/pnas.0708616105
Aksentijevich, 2009, An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist, N Engl J Med, 360, 2426, 10.1056/NEJMoa0807865
McGonagle, 2006, A proposed classification of the immunological diseases, PloS Med, 3, e297, 10.1371/journal.pmed.0030297
Konstantopoulos, 2003, Familial Mediteranean fever associated pyrin mutations in Greece, Ann Rheum Dis, 62, 479, 10.1136/ard.62.5.479
La Regina, 2003, Familial Mediteranean fever is no longer a rare disease in Italy, Eur J Hum Genet, 11, 50, 10.1038/sj.ejhg.5200916
Ben-Chetrit, 2009, Familial Mediterranean fever in the world, Arthritis Rheum, 61, 1447, 10.1002/art.24458
Tunca, 2005, Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study, Medicine (Baltimore), 84, 1, 10.1097/01.md.0000152370.84628.0c
Kisacik, 2009, Increased frequency of familial Mediterranean fever in northern Turkey: a population-based study, Rheumatol Int, 29, 1307, 10.1007/s00296-009-0849-z
El-Shanti, 2006, Familial Mediteranean fever in Arabs, Lancet, 367, 1016, 10.1016/S0140-6736(06)68430-4
Hull, 2002, The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder, Medicine, 81, 349, 10.1097/00005792-200209000-00002
Aksentijevich, 2007, The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model, Arthritis Rheum, 56, 1273, 10.1002/art.22491
Grateau, 2000, The relation between familial Mediteranean fever and amyloidosis, Curr Opin Rheumatol, 12, 61, 10.1097/00002281-200001000-00010
Farasat, 2008, Autoinflammatory diseases. Clinical and genetic advances, Arch Dermatol, 144, 392, 10.1001/archderm.144.3.392
Tchernitchko, 2005, MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients, Arthritis Rheum, 52, 3603, 10.1002/art.21408
Simon, 2006, Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes, Rheumatology, 45, 269, 10.1093/rheumatology/kei138
Livnch, 1997, Criteria for the diagnosis of familial Mediteranean fever, Arthritis Rheum, 40, 1879, 10.1002/art.1780401023
Lachmann, 2006, Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations, Rheumatology, 45, 746, 10.1093/rheumatology/kei279
Marek-Yagel, 2009, Clinical disease among patients heterozygous for familial Mediterranean fever, Arthritis Rheum, 60, 1862, 10.1002/art.24570
Schoindre, 2009, TNF receptor-associated periodic syndrome (TRAPS): a new cause of joint destruction?, Joint Bone Spine, 10.1016/j.jbspin.2009.08.002
Goldbach-Mansky, 2006, Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition, N Engl J Med, 355, 581, 10.1056/NEJMoa055137
van der Hilst, 2008, Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome, Medicine, 87, 301, 10.1097/MD.0b013e318190cfb7
Simon, 2004, Mevalonate kinase deficiency. Evidence for a phenotypic continuum, Neurology, 62, 994, 10.1212/01.WNL.0000115390.33405.F7
Ivker, 1993, Infantile generalized pustular psoriasis associated with lytic lesions of the bone, Pediatr Dermatol, 10, 277, 10.1111/j.1525-1470.1993.tb00376.x
Hoffman, 2001, Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome, Nat Genet, 29, 301, 10.1038/ng756
Ting, 2008, The NLR gene family: a standard nomenclature, Immunity, 28, 285, 10.1016/j.immuni.2008.02.005
Martinon, 2002, The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-β, Mol Cell, 10, 417, 10.1016/S1097-2765(02)00599-3
Martinon, 2009, The inflammasomes: guardians of the body, Annu Rev Immunol, 27, 229, 10.1146/annurev.immunol.021908.132715
Agostini, 2004, NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle–Wells autoinflammatory disorder, Immunity, 20, 319, 10.1016/S1074-7613(04)00046-9
Dinarello, 2007, Mutations in cryopyrin: bypassing roadblocks in the caspase 1 inflammasome for interleukin-1beta secretion and disease activity, Arthritis Rheum, 56, 2817, 10.1002/art.22841
Frenkel, 2002, Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome, Arthritis Rheum, 46, 2794, 10.1002/art.10550
Kallinich, 2007, Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement, Pediatrics, 119, e474, 10.1542/peds.2006-1434
Lidar, 2004, Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization, Semin Arthritis Rheum, 33, 273, 10.1053/S0049-0172(03)00137-9
Erken, 2008, Early suppression of familial Mediterranean fever attacks by single medium dose methyl-prednisolone infusion, Joint Bone Spine, 75, 370, 10.1016/j.jbspin.2007.10.004
Belkhir, 2007, Treatment of familial Mediterranean fever with anakinra, Ann Intern Med, 146, 825, 10.7326/0003-4819-146-11-200706050-00023
Gattringer, 2007, Anakinra in two adolescent female patients suffering from colchicine-resistant familial Mediterranean fever: effective but risky, Eur J Clin Invest, 39, 912, 10.1111/j.1365-2362.2007.01868.x
Kuijk, 2007, Effective treatment of a colchicine-resistant familial Mediterranean fever patient with anakinra, Ann Rheum Dis, 66, 1545, 10.1136/ard.2007.071498
Nedjai, 2009, Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome, Arthritis Rheum, 60, 619, 10.1002/art.24294
Simon, 2004, Beneficial response to interleukin 1 receptor antagonist in TRAPS, Am J Med, 117, 208, 10.1016/j.amjmed.2004.02.039
Gattorno, 2008, Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome, Arthritis Rheum, 58, 1516, 10.1002/art.23475
Drewe, 2000, Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome, New Engl J Med, 343, 1044, 10.1056/NEJM200010053431412
Hawkins, 2003, Interleukin-1-receptor antagonist in the Muckle–Wells syndrome, N Engl J Med, 348, 2583, 10.1056/NEJM200306193482523
Leslie, 2006, Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations, Arch Dermatol, 142, 1591, 10.1001/archderm.142.12.1591
Thornton, 2007, Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist, Am J Kidney Dis, 49, 477, 10.1053/j.ajkd.2006.10.026
Hoffman, 2008, Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies, Arthritis Rheum, 58, 2443, 10.1002/art.23687