rs151344629
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.
|
15593220 |
2004 |
rs151344629
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.
|
24952504 |
2014 |
rs151344629
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
|
12032915 |
2002 |
rs151344629
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy.
|
15231984 |
2004 |
rs151344629
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
|
12483741 |
2002 |
rs151344629
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.
|
15334500 |
2004 |
rs180177432
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177433
|
|
|
0.710 |
GeneticVariation |
BEFREE |
CIAS1 sequencing identified the T436I mutation, previously associated to a clinical phenotype of chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease.
|
18080732 |
2008 |
rs180177433
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177434
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177435
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177436
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177438
|
|
|
0.710 |
GeneticVariation |
BEFREE |
One of them, a 3-yr-old boy, has a 1709A-->G, Y570C, mutation, which has previously been described to cause CINCA syndrome.
|
12930324 |
2003 |
rs180177438
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177439
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177442
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177444
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177445
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177446
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177447
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177449
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177451
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment.
|
16532456 |
2006 |
rs180177452
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs180177468
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this report we describe a case of severe chronic infantile neurologic, cutaneous, articular (CINCA) syndrome with a novel G307V cryopyrin mutation and all of the characteristic clinical and laboratory features of this autoinflammatory disease.
|
16802372 |
2006 |
rs200758008
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This had initially been regarded as background noise, but in retrospect is completely consistent with somatic mosaicism for the p.F556L NLRP3 mutation in this child with CINCA syndrome.
|
24431285 |
2014 |