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References

These sources were used to develop the Genetics Home Reference condition summary on Muckle-Wells syndrome.

Aksentijevich I, D Putnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007 Apr;56(4):1273-85. PubMed citation
Church LD, Cook GP, McDermott MF. Primer: inflammasomes and interleukin 1beta in inflammatory disorders. Nat Clin Pract Rheumatol. 2008 Jan;4(1):34-42. doi: 10.1038/ncprheum0681. Review. PubMed citation
Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, Scott DG, Nicholls A, Pavek S, Vasseur C, Beckmann JS, Delpech M, Grateau G. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet. 1999 Oct;65(4):1054-9. PubMed citation
Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A, Granel B, Frances C, Garcier F, Edery P, Boulinguez S, Domergues JP, Delpech M, Grateau G. 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 Jun;70(6):1498-506. Epub 2002 Apr 25. PubMed citation
El-Darouti MA, Marzouk SA, Abdel-Halim MR. Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. Int J Dermatol. 2006 Mar;45(3):239-44. PubMed citation
Farasat S, Aksentijevich I, Toro JR. Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol. 2008 Mar;144(3):392-402. Review. PubMed citation
Gerbig AW, Dahinden CA, Mullis P, Hunziker T. Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis? QJM. 1998 Jul;91(7):489-92. PubMed citation
Haas N, Küster W, Zuberbier T, Henz BM. Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred. Br J Dermatol. 2004 Jul;151(1):99-104. PubMed citation
Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med. 2003 Jun 19;348(25):2583-4. PubMed citation
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 Nov;29(3):301-5. PubMed citation
Kanazawa N, Furukawa F. Autoinflammatory syndromes with a dermatological perspective. J Dermatol. 2007 Sep;34(9):601-18. Review. PubMed citation
OMIM: MUCKLE-WELLS SYNDROME
Stankovic K, Grateau G. Auto inflammatory syndromes: Diagnosis and treatment. Joint Bone Spine. 2007 Dec;74(6):544-50. Epub 2007 Sep 20. Review. PubMed citation
Tunca M, Ozdogan H. Molecular and genetic characteristics of hereditary autoinflammatory diseases. Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):77-80. Review. PubMed citation
Watts RA, Nicholls A, Scott DG. The arthropathy of the Muckle-Wells syndrome. Br J Rheumatol. 1994 Dec;33(12):1184-7. PubMed citation


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