Condition: Familial Cold Autoinflammatory Syndrome 1


rs121908146 in NLRP3 gene and Familial Cold Autoinflammatory Syndrome 1 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 15593220 2004 Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

PMID 12522564 2003 Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

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

PMID 17284928 2007 A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.

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