Muckle-Wells syndrome

Definition:

Muckle-Wells syndrome (MWS) is a rare inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated with excessive interleukin-1 release. MWS is part of a spectrum of cryopyrin-associated periodic syndrome (CAPS).

References:

[1]. Jasmin B Kuemmerle-Deschner, et al. Hearing loss in Muckle-Wells syndrome. Arthritis Rheum. 2013 Mar;65(3):824-31. [Content Brief]

[2]. Jasmin B Kuemmerle-Deschner, et al. 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(6):R196. [Content Brief]

[3]. Soraia Raquel Loureiro Azevedo, et al. Muckle-Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family. World J Pediatr. 2020 Oct;16(5):541-542. [Content Brief]

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