rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.
23442610
2013
rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
A cryopyrin-associated periodic syndrome with joint destruction.
17178739
2007
rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
11992256
2002
rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome.
16100350
2005
rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra.
20472245
2010
rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
Neurology of the cryopyrin-associated periodic fever syndrome.
26931528
2016
rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance.
25730877
2015
rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.
26245507
2015
rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.
26531310
2015
rs151344629
×
Entrez Id:
114548
Gene Symbol:
NLRP3
NLRP3
Cryopyrin-Associated Periodic Syndromes
T
0.700
CausalMutation
CLINVAR
Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS).
21356079
2011