Condition: Cryopyrin-Associated Periodic Syndromes


rs121908146 in NLRP3 gene and Cryopyrin-Associated Periodic Syndromes PMID 26245507 2015 Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.

PMID 15801036 2005 Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.

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

PMID 26931528 2016 Neurology of the cryopyrin-associated periodic fever syndrome.

PMID 27134254 2016 NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.

PMID 25596455 2015 A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants.

PMID 22193915 2012 Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients.

PMID 15020601 2004 Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC.

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 24517500 2014 CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction.

PMID 20472245 2010 Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra.

PMID 16100350 2005 The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome.

PMID 21356079 2011 Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS).

PMID 17178739 2007 A cryopyrin-associated periodic syndrome with joint destruction.

PMID 25730877 2015 Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance.

PMID 26531310 2015 Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.

PMID 23442610 2013 The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.

PMID 16081838 2005 IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients.

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