Condition: Muckle-Wells Syndrome


rs121908147 in NLRP3 gene and Muckle-Wells Syndrome PMID 11992256 2002 New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

PMID 12355493 2002 The V200M variant was present in all affected members of the British family with MWS, in 2 of the 50 subjects with uncharacterized periodic fevers, and in 1 of 130 Caucasian and 2 of 48 Indian healthy controls.

PMID 15593220 2004 Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

PMID 11687797 2001 Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.

PMID 24952504 2014 The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.

PMID 12355493 2002 Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

PMID 12355493 2002 The R262W variant was also present in the subject with sporadic MWS.

PMID 11992256 2002 The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes.