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REFERENCES

  • 1
    Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005; 17: 58699.
  • 2
    Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand J Rheumatol Suppl 1987; 66: 5768.
  • 3
    Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, 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: 33408.
  • 4
    Muckle TJ, Wells M. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med 1962; 31: 23548.
  • 5
    Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004; 50: 60712.
  • 6
    Kanneganti TD, Ozoren N, Body-Malapel M, Amer A, Park JH, Franchi L, et al. Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3. Nature 2006; 440: 2336.
  • 7
    Mariathasan S, Weiss DS, Newton K, McBride J, O'Rourke K, Roose-Girma M, et al. Cryopyrin activates the inflammasome in response to toxins and ATP. Nature 2006; 440: 22832.
  • 8
    Martinon F, Petrilli V, Mayor A, Tardivel A, Tschopp J. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 2006; 440: 23741.
  • 9
    Sutterwala FS, Ogura Y, Szczepanik M, Lara-Tejero M, Lichtenberger GS, Grant EP, et al. Critical role for NALP3/CIAS1/cryopyrin in innate and adaptive immunity through its regulation of caspase-1. Immunity 2006; 24: 31727.
  • 10
    Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1β-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004; 20: 31925.
  • 11
    Janssen R, Verhard E, Lankester A, ten Cate R, van Dissel JT. Enhanced interleukin-1β and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum 2004; 50: 332933.
  • 12
    Cohen S, Hurd E, Cush J, Schiff M, Weinblatt ME, Moreland LW, et al. 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: 61424.
  • 13
    Kuemmerle-Deschner JB, Tyrrell PN, Reese F, Kotter I, Lohse P, Girschick H, et al. Risk factors for severe Muckle-Wells syndrome. Arthritis Rheum 2010; 62: 378391.
  • 14
    Foell D, Kucharzik T, Kraft M, Vogl T, Sorg C, Domschke W, et al. Neutrophil derived human S100A12 (EN-RAGE) is strongly expressed during chronic active inflammatory bowel disease. Gut 2003; 52: 84753.
  • 15
    Feldmann H. Quantitative evaluation of hearing disorders in expert assessment: a recent recommendation for calculating the percentage of hearing loss. Laryngol Rhinol Otol (Stuttg) 1988; 67: 31925. In German.
  • 16
    Hawkins PN, Lavender JP, Pepys MB. Evaluation of systemic amyloidosis by scintigraphy with 123I-labeled serum amyloid P component. N Engl J Med 1990; 323: 50813.
  • 17
    Kuemmerle-Deschner JB, Koetter I, Dannecker GE, Bialkowski A, Tzaribachev N, Koch S, et al. New CIAS1 E311K mutation and cytokine profile in a family of 3 generations with the clinical picture of Muckle-Wells syndrome [abstract]. Clin Exp Rheumatol 2004; 22: 531.
  • 18
    Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 2006; 142: 15917.
  • 19
    Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 2004; 364: 177985.
  • 20
    Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N Engl J Med 2006; 355: 58192.
  • 21
    Maksimovic L, Stirnemann J, Caux F, Ravet N, Rouaghe S, Cuisset L, et al. New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. Rheumatology (Oxford) 2008; 47: 30910.
  • 22
    Dalgic B, Egritas O, Sari S, Cuisset L. A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. Pediatr Nephrol 2007; 22: 13914.
  • 23
    Mirault T, Launay D, Cuisset L, Hachulla E, Lambert M, Queyrel V, et al. Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis Rheum 2006; 54: 1697700.
  • 24
    Yamazaki T, Masumoto J, Agematsu K, Sawai N, Kobayashi S, Shigemura T, et al. Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. Arthritis Rheum 2008; 58: 8648.
  • 25
    Rynne M, Maclean C, Bybee A, McDermott MF, Emery P. Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. Ann Rheum Dis 2006; 65: 5334.
  • 26
    Lovell DJ, Bowyer SL, Solinger AM. Interleukin-1 blockade by anakinra improves clinical symptoms in patients with neonatal-onset multisystem inflammatory disease. Arthritis Rheum 2005; 52: 12836.
  • 27
    Foell D, Wittkowski H, Roth J. Mechanisms of disease: a ‘DAMP’ view of inflammatory arthritis. Nat Clin Pract Rheumatol 2007; 3: 38290.