Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, Pelkonnen P, Chevrant-Breton J, Ansell BM: A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand J Rheumatol Suppl. 1987, 66: 57-68.
Article
CAS
PubMed
Google Scholar
Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, et al: De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002, 46: 3340-3348. 10.1002/art.10688.
Article
PubMed Central
CAS
PubMed
Google Scholar
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD: Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001, 29: 301-305. 10.1038/ng756.
Article
PubMed Central
CAS
PubMed
Google Scholar
Stojanov S, Kastner DL: Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005, 17: 586-599. 10.1097/bor.0000174210.78449.6b.
Article
CAS
PubMed
Google Scholar
Shinkai K, McCalmont TH, Leslie KS: Cryopyrin-associated periodic syndromes and autoinflammation. Clin Exp Dermatol. 2008, 33: 1-9.
CAS
PubMed
Google Scholar
Kanneganti TD, Ozoren N, Body-Malapel M, Amer A, Park JH, Franchi L, Whitfield J, Barchet W, Colonna M, Vandenabeele P, et al: Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3. Nature. 2006, 440: 233-236. 10.1038/nature04517.
Article
CAS
PubMed
Google Scholar
Mariathasan S, Weiss DS, Newton K, McBride J, O'Rourke K, Roose-Girma M, Lee WP, Weinrauch Y, Monack DM, Dixit VM: Cryopyrin activates the inflammasome in response to toxins and ATP. Nature. 2006, 440: 228-232. 10.1038/nature04515.
Article
CAS
PubMed
Google Scholar
Martinon F, Petrilli V, Mayor A, Tardivel A, Tschopp J: Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature. 2006, 440: 237-241. 10.1038/nature04516.
Article
CAS
PubMed
Google Scholar
Sutterwala FS, Ogura Y, Szczepanik M, Lara-Tejero M, Lichtenberger GS, Grant EP, Bertin J, Coyle AJ, Galan JE, Askenase PW, et al: Critical role for NALP3/CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1. Immunity. 2006, 24: 317-327. 10.1016/j.immuni.2006.02.004.
Article
CAS
PubMed
Google Scholar
Dinarello CA: A clinical perspective of IL-1beta as the gatekeeper of inflammation. Eur J Immunol. 2011, 41: 1203-1217. 10.1002/eji.201141550.
Article
CAS
PubMed
Google Scholar
Goldbach-Mansky R: Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1. Clin Exp Immunol. 2011, 167: 391-404.
Article
Google Scholar
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: 319-325. 10.1016/S1074-7613(04)00046-9.
Article
CAS
PubMed
Google Scholar
Janssen R, Verhard E, Lankester A, Ten Cate R, van Dissel JT: Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2004, 50: 3329-3333. 10.1002/art.20494.
Article
PubMed
Google Scholar
Muckle TJ, Wells M: Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962, 31: 235-248.
CAS
PubMed
Google Scholar
Hawkins PN, Lachmann HJ, Aganna E, McDermott MF: Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004, 50: 607-612. 10.1002/art.20033.
Article
CAS
PubMed
Google Scholar
Lachmann HJ, Goodman HJ, Gilbertson JA, Gallimore JR, Sabin CA, Gillmore JD, Hawkins PN: Natural history and outcome in systemic AA amyloidosis. N Engl J Med. 2007, 356: 2361-2371. 10.1056/NEJMoa070265.
Article
CAS
PubMed
Google Scholar
Miranda LP, Tao T, Jones A, Chernushevich I, Standing KG, Geczy CL, Alewood PF: Total chemical synthesis and chemotactic activity of human S100A12 (EN-RAGE). FEBS Lett. 2001, 488: 85-90. 10.1016/S0014-5793(00)02392-9.
Article
CAS
PubMed
Google Scholar
Wittkowski H, Sturrock A, van Zoelen MA, Viemann D, van der Poll T, Hoidal JR, Roth J, Foell D: Neutrophil-derived S100A12 in acute lung injury and respiratory distress syndrome. Crit Care Med. 2007, 35: 1369-1375. 10.1097/01.CCM.0000262386.32287.29.
Article
PubMed
Google Scholar
Foell D, Wittkowski H, Hammerschmidt I, Wulffraat N, Schmeling H, Frosch M, Horneff G, Kuis W, Sorg C, Roth J: Monitoring neutrophil activation in juvenile rheumatoid arthritis by S100A12 serum concentrations. Arthritis Rheum. 2004, 50: 1286-1295. 10.1002/art.20125.
Article
CAS
PubMed
Google Scholar
Wittkowski H, Frosch M, Wulffraat N, Goldbach-Mansky R, Kallinich T, Kuemmerle-Deschner J, Fruhwald MC, Dassmann S, Pham TH, Roth J, et al: S100A12 is a novel molecular marker differentiating systemic-onset juvenile idiopathic arthritis from other causes of fever of unknown origin. Arthritis Rheum. 2008, 58: 3924-3931. 10.1002/art.24137.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kallinich T, Wittkowski H, Keitzer R, Roth J, Foell D: Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever. Ann Rheum Dis. 2010, 69: 677-682. 10.1136/ard.2009.114363.
Article
CAS
PubMed
Google Scholar
Hoffman HM, Throne ML, Amar NJ, Sebai M, Kivitz AJ, Kavanaugh A, Weinstein SP, Belomestnov P, Yancopoulos GD, Stahl N, et al: Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008, 58: 2443-2452. 10.1002/art.23687.
Article
CAS
PubMed
Google Scholar
Goldbach-Mansky R, Shroff SD, Wilson M, Snyder C, Plehn S, Barham B, Pham TH, Pucino F, Wesley RA, Papadopoulos JH, 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, 58: 2432-2442. 10.1002/art.23620.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, Gitton X, Widmer A, Patel N, Hawkins PN: Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009, 360: 2416-2425. 10.1056/NEJMoa0810787.
Article
CAS
PubMed
Google Scholar
Hawkins PN, Lachmann HJ, McDermott MF: Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med. 2003, 348: 2583-2584. 10.1056/NEJM200306193482523.
Article
PubMed
Google Scholar
Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, Pinto G, Pagnier A, Bodemer C, Bodaghi B, et al: Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2010, 62: 258-267.
Article
CAS
PubMed
Google Scholar
Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, Anderson JP, Wanderer AA, Firestein GS: Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet. 2004, 364: 1779-1785. 10.1016/S0140-6736(04)17401-1.
Article
PubMed Central
CAS
PubMed
Google Scholar
Ross JB, Finlayson LA, Klotz PJ, Langley RG, Gaudet R, Thompson K, Churchman SM, McDermott MF, Hawkins PN: Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. J Cutan Med Surg. 2008, 12: 8-16.
CAS
PubMed
Google Scholar
Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, et al: Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006, 355: 581-592. 10.1056/NEJMoa055137.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kuemmerle-Deschner JB, Tyrrell PN, Koetter I, Wittkowski H, Bialkowski A, Tzaribachev N, Lohse P, Koitchev A, Deuter C, Foell D, et al: Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis Rheum. 2011, 63: 840-849. 10.1002/art.30149.
Article
PubMed
Google Scholar
Cohen S, Hurd E, Cush J, Schiff M, Weinblatt ME, Moreland LW, Kremer J, Bear MB, Rich WJ, McCabe D: Treatment of rheumatoid arthritis with anakinra, a recombinant human interleukin-1 receptor antagonist, in combination with methotrexate: results of a twenty-four-week, multicenter, randomized, double-blind, placebo-controlled trial. Arthritis Rheum. 2002, 46: 614-624. 10.1002/art.10141.
Article
CAS
PubMed
Google Scholar
Kummerle-Deschner JB, Tyrrell PN, Reess F, Kotter I, Lohse P, Girschick H, Huemer C, Horneff G, Haas JP, Koitschev A, et al: Risk factors for severe Muckle-Wells syndrome. Arthritis Rheum. 2010, 62: 3783-3791. 10.1002/art.27696.
Article
PubMed
Google Scholar
Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Reess F, Ummenhofer K, Koch S, Tzaribachev N, Bialkowski A, Benseler SM: NLRP3 E311K mutation in a large family with Muckle-Wells syndrome: description of a heterogeneous phenotype and response to treatment. Arthritis Res Ther. 2011, 13: R196-10.1186/ar3526.
Article
PubMed Central
CAS
PubMed
Google Scholar
Foell D, Kucharzik T, Kraft M, Vogl T, Sorg C, Domschke W, Roth J: Neutrophil derived human S100A12 (EN-RAGE) is strongly expressed during chronic active inflammatory bowel disease. Gut. 2003, 52: 847-853. 10.1136/gut.52.6.847.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kuemmerle-Deschner JB, Hachulla E, Cartwright R, Hawkins PN, Tran TA, Bader-Meunier B, Hoyer J, Gattorno M, Gul A, Smith J, et al: Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Ann Rheum Dis. 2011, 70: 2095-2102. 10.1136/ard.2011.152728.
Article
CAS
PubMed
Google Scholar
Lachmann HJ, Sengul B, Yavuzsen TU, Booth DR, Booth SE, Bybee A, Gallimore JR, Soyturk M, Akar S, Tunca M, et al: Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford). 2006, 45: 746-750. 10.1093/rheumatology/kei279.
Article
CAS
Google Scholar
Foell D, Roth J: Proinflammatory S100 proteins in arthritis and autoimmune disease. Arthritis Rheum. 2004, 50: 3762-3771. 10.1002/art.20631.
Article
CAS
PubMed
Google Scholar