• 1
    Farasat S, Aksentijevich I, Toro JR. Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol 2008; 144: 392402.
  • 2
    Glaser RL, Goldbach-Mansky R. The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies. Curr Allergy Asthma Rep 2008; 8: 28898.
  • 3
    Touitou I, Kone-Paut I. Autoinflammatory diseases. Best Pract Res Clin Rheumatol 2008; 22: 81129.
  • 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
    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.
  • 7
    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.
  • 8
    Lachmann HJ, Lowe P, Felix SD, Rordorf C, Leslie K, Madhoo S, et al. In vivo regulation of interleukin 1β in patients with cryopyrin-associated periodic syndromes. J Exp Med 2009; 206: 102936.
  • 9
    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: 3015.
  • 10
    Infevers database: the registry of hereditary auto-inflammatory disorders mutations. URL:
  • 11
    UniProt database. URL:
  • 12
    Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007; 56: 127385.
  • 13
    Kümmerle-Deschner J, Tyrrell PN, Koetter I, Wittkowski H, Bialkowski A, Tzaribachev N, et al. Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis Rheum 2010. E-pub ahead of print.
  • 14
    Kuemmerle-Deschner JB, Bergmann J, Ihle J, Orlikowski T, Dannecker GE. ARDIS - Arthritis and Rheumatism Database and Information System [abstract]. Arthritis Rheum 1999; 42 Suppl: S327.
  • 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
    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.
  • 17
    Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum 2002; 46: 244552.
  • 18
    Dode C, Le Du N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 2002; 70: 1498506.
  • 19
    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.
  • 20
    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.
  • 21
    Stack JH, Beaumont K, Larsen PD, Straley KS, Henkel GW, Randle JC, et al. Converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients. J Immunol 2005; 175: 26304.
  • 22
    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.