|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We describe a French family presenting an intrafamilial overlapping clinical phenotype of CINCA and Muckle-Wells syndrome, caused by a mutation in CIAS1 gene.
|
15801036 |
2005 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Because of the severe cartilage overgrowth observed in some patients with CINCA syndrome and the implications of polymorphonuclear cell infiltration in the cutaneous and neurological manifestations of this syndrome, the tissue-specific expression of CIAS1 was evaluated.
|
12032915 |
2002 |
|
Muckle-Wells Syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
|
11687797 |
2001 |
|
Familial cold urticaria
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
|
11687797 |
2001 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Familial Cold Autoinflammatory Syndrome 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Muckle-Wells Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients.
|
16081838 |
2005 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.
|
27134254 |
2016 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.
|
26531310 |
2015 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
|
11687797 |
2001 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.
|
23442610 |
2013 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
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 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance.
|
25730877 |
2015 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.
|
15801036 |
2005 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC.
|
15020601 |
2004 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients.
|
22193915 |
2012 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants.
|
25596455 |
2015 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Neurology of the cryopyrin-associated periodic fever syndrome.
|
26931528 |
2016 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
|
12522564 |
2003 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
|
11992256 |
2002 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A cryopyrin-associated periodic syndrome with joint destruction.
|
17178739 |
2007 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction.
|
24517500 |
2014 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The T348M mutated form of cryopyrin is associated with defective lipopolysaccharide-induced interleukin 10 production in CINCA syndrome.
|
16100350 |
2005 |