Enfermedades autoinflamatorias sistémicas hereditarias
Tài liệu tham khảo
McDermott, 1999, Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes, Cell, 97, 133, 10.1016/S0092-8674(00)80721-7
Kastner, 2007, Chapter 27: Periodic fever syndromes, 367
Brydges, 2006, The systemic autoinflammatory diseases: inborn errors of the innate immune system, Curr Top Microbiol Immunol, 305, 127, 10.1007/3-540-29714-6_7
Drenth, 2001, Hereditary Periodic Fever, N Engl J Med, 345, 1748, 10.1056/NEJMra010200
Samuels, 1998, 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), 77, 268, 10.1097/00005792-199807000-00005
Ben-Chetrit, 1998, Familial Mediterranean fever, Lancet, 351, 659, 10.1016/S0140-6736(97)09408-7
Lachmann, 2007, Natural History and outcome in systemic AA amyloidosis, N Engl J Med, 356, 2361, 10.1056/NEJMoa070265
Goldstein, 1974, Prophylactic colchicine therapy in familial Mediterranean fever. A controlled, double-blind study, Ann Intern Med, 81, 792, 10.7326/0003-4819-81-6-792
Dinarello, 1974, Colchicine therapy for Familial Mediterranean Fever. A double-blind trial, N Engl J Med, 291, 934, 10.1056/NEJM197410312911804
Zemer, 1974, A controlled trial of colchicine in preventing attacks of familial Mediterranean fever, N Engl J Med, 291, 932, 10.1056/NEJM197410312911803
1997, Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever, Cell, 90, 797, 10.1016/S0092-8674(00)80539-5
1997, A candidate gene for familial Mediterranean fever, Nat Genet, 17, 25, 10.1038/ng0997-25
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
Dode, 2000, Mutations in the MEFV Gene in a Large Series of Patients With a Clinical Diagnosis of Familial Mediterranean Fever, Am J Med Genet, 92, 241, 10.1002/(SICI)1096-8628(20000605)92:4<241::AID-AJMG3>3.0.CO;2-G
Williamson, 1982, Familial hibernian fever, Quart J Med, 51, 469
Mulley, 1998, Gene localization for an autosomal dominant familial periodic fever to 12p13, Am J Hum Genet, 62, 884, 10.1086/301793
Karenko, 1992, Autosomal dominant “Mediterranean fever” in a Finnish family, J Int Med, 232, 365, 10.1111/j.1365-2796.1992.tb00600.x
Hull, 2002, The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder, Medicine (Baltimore), 81, 349, 10.1097/00005792-200209000-00002
Touitou, 2004, INFEVERS: an evolving mutation database for auto-inflammatory syndromes, Hum Mut, 24, 194, 10.1002/humu.20080
Drewe, 2003, Rheumatology, 42, 235, 10.1093/rheumatology/keg070
Hull, 2002, Hereditary periodic fever, N Engl J Med, 346, 1415, 10.1056/NEJM200205023461819
Arostegui, 2005, Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response, Eur J Pediatr, 164, 13, 10.1007/s00431-004-1563-1
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
van der Meer, 1984, Hyperimmunoglobulinaemia D and periodic fever: a new syndrome, Lancet, 1, 1087, 10.1016/S0140-6736(84)92505-4
Drenth, 1994, Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients, Medicine (Baltimore), 73, 133, 10.1097/00005792-199405000-00002
van der Hilst, 2008, Long-term follow-up, linical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome, Medicine (Baltimore), 87, 301, 10.1097/MD.0b013e318190cfb7
Obici, 2004, First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome, Arthritis Rheum, 50, 2966, 10.1002/art.20490
Lachmann, 2006, AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases, Arthritis Rheum, 54, 2010, 10.1002/art.21901
Houten, 1999, Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome, Nat Genet, 22, 175, 10.1038/9691
Drenth, 1999, Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome, Nat Genet, 22, 178, 10.1038/9696
Hoffmann, 1986, Mevalonic aciduria: an inborn error of cholesterol and nonsterol isoprene biosynthesis, N Engl J Med, 314, 1610, 10.1056/NEJM198606193142504
Simon, 2004, Mevalonate kinase deficiency: Evidence for a phenotypic continuum, Neurology, 62, 994, 10.1212/01.WNL.0000115390.33405.F7
Cuisset, 2001, Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome, Eur J Hum Genet, 9, 260, 10.1038/sj.ejhg.5200614
Picco, 2001, Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome, Ann Rheum Dis, 60, 904
Drenth, 2001, Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo controlled trial, J Pharmacol Exp Ther, 298, 1221
Takada, 2003, Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome, Arthritis Rheum, 48, 2645, 10.1002/art.11218
Simon, 2004, Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome, Clin Pharmacol Ther, 75, 476, 10.1016/j.clpt.2004.01.012
Bodar, 2005, Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model, Neth J Med, 63, 260
Cailliez, 2006, Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis, J Inherit Metab Dis, 29, 763, 10.1007/s10545-006-0408-7
Kile, 1940, A case of cold urticaria with an unusual family history, J Am Med Assoc, 114, 1067, 10.1001/jama.1940.62810120003010b
Witherspoon, 1948, Familial urticaria due to cold, Arch Dermatol Syphilol, 58, 52, 10.1001/archderm.1948.01520200055007
Muckle, 1962, Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome, QJM, 31, 235
Prieur, 1981, Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation, J Pediatr, 99, 79, 10.1016/S0022-3476(81)80961-4
Prieur, 1987, A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients, Scand J Rheumatology, 66, 57, 10.3109/03009748709102523
Hoffman, 2001, Mutations of a new gene encoding a putative pyrin-like protein causes familial cold autoinflamatory syndrome and Muckle-Wells syndrome, Nature Genet, 29, 301, 10.1038/ng756
Feldman, 2002, Chronic Infantile Neurological Cutaneous and Articular Syndrome is Caused by mutations in CIAS1, a Gene Highly Expressed in polymorphonuclear Cells and Chondrocytes, Am J Hum Genet, 71, 198, 10.1086/341357
Ting, 2006, CATERPILLERs, pyrin and hereditary immunological disorders, Nat Rev Immunol, 6, 183, 10.1038/nri1788
Hawkins, 2003, Interleukin-1-receptor antagonist in the Muckle-Wells syndrome, N Engl J Med, 348, 2583, 10.1056/NEJM200306193482523
Hoffman, 2004, Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist, Lancet, 364, 1779, 10.1016/S0140-6736(04)17401-1
Ramos, 2005, Positive clinical and biochemical responses to anakinra in a 3-yr-old patient with cryopyrin-associated periodic syndrome (CAPS), Rheumatology, 44, 1072, 10.1093/rheumatology/keh652
Goldbach-Mansky, 2006, Neonatal-Onset Multisystem Inflammatory Disease responsive to interleukin-1β inhibition, N Engl J Med, 355, 581, 10.1056/NEJMoa055137
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
Goldbach-Mansky, 2008, 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, 58, 2432, 10.1002/art.23620
North, 1970, Sarcoid arthritis in children, Am J Med, 48, 449, 10.1016/0002-9343(70)90044-6
Gluck, 1972, Sarcoidosis in a young child, J Pediatr, 81, 354, 10.1016/S0022-3476(72)80312-3
Blau, 1985, Familial granulomatous arthritis, iritis, and rash, J Pediatr, 107, 689, 10.1016/S0022-3476(85)80394-2
Jabs, 1985, Familial granulomatous synovitis, uveitis, and cranial neuropathies, Am J Med, 78, 801, 10.1016/0002-9343(85)90286-4
Miller 3rd, 1986, Early-onset “sarcoidosis” and “familial granulomatous arthritis (arteritis)”: the same disease, J Pediatr, 109, 387, 10.1016/S0022-3476(86)80411-5
Kanazawa, 2005, Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome, Blood, 105, 1195, 10.1182/blood-2004-07-2972
Rose, 2006, Pediatric granulomatous arthritis. An international registry, Arthritis Rheum, 54, 3337, 10.1002/art.22122
Aróstegui, 2007, NOD2 gene-associated Pediatric granulomatous arthritis. Clinical diversity, novel and recurrent mutations and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort, Arthritis Rheum, 56, 3805, 10.1002/art.22966
Miceli-Richard, 2001, CARD15 mutations in Blau syndrome, Nat Genet, 29, 19, 10.1038/ng720
Inohara, 2003, NODs: intracellular proteins involved in inflammation and apoptosis, Nature Rev Immunol, 3, 371, 10.1038/nri1086
Priori, 2004, Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up, Sarcoidosis Vasc Diffuse Lung Dis, 21, 228
Rose, 2005, Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis, J Rheumatol, 32, 335
Lindor, 1997, A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne:PAPA syndrome, Mayo Clin Proc, 72, 611, 10.1016/S0025-6196(11)63565-9
Wise, 2000, Localization of a gene for familial recurrent arthritis, Arthritis Rheum, 43, 2041, 10.1002/1529-0131(200009)43:9<2041::AID-ANR15>3.0.CO;2-G
Wise, 2002, Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder, Hum Mol Genet, 11, 961, 10.1093/hmg/11.8.961
Shoham, 2003, Pyrin binds the PSTPIP1-CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway, PNAS, 100, 13501, 10.1073/pnas.2135380100
Dierselhuis, 2005, Anakinra for flares of pyogenic arthritis in PAPA syndrome, Rheumatology, 44, 406, 10.1093/rheumatology/keh479
Stichweh, 2005, Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome, Pediatr Dermatol, 22, 262, 10.1111/j.1525-1470.2005.22320.x
Cortis, 2004, Abnormal production of tumor necrosis factor (TNF)—alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome, J Pediatr, 145, 851, 10.1016/j.jpeds.2004.08.001