Autoinflammatory disorder
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the CIAS1 gene, which encodes a member of the NALP (NACHT-, LRR-, and PYD-containing proteins) family, the cryopyrin/NALP3/PYPAF1 protein, expressed primarily in phagocytic cells, were recently found to be associated with a spectrum of autoinflammatory disorders.
|
14630794 |
2004 |
Autoinflammatory disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Increased inflammasome activity is therefore likely to be the molecular basis of the symptoms associated with NALP3-dependent autoinflammatory disorders.
|
15030775 |
2004 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in cryopyrin and pyrin proteins are responsible for several autoinflammatory disorders in humans, suggesting that these proteins play important roles in regulating inflammation.
|
16037825 |
2006 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results further link mutations in cryopyrin with abnormal caspase-1 activation, and support the clinical testing of caspase-1 inhibitors such as VX-765 in autoinflammatory disorders.
|
16081838 |
2005 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The cryopyrinopathies are a group of rare autoinflammatory disorders that are caused by mutations in CIAS1, encoding the cryopyrin protein.
|
17393462 |
2007 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The autoinflammatory disorders Muckle-Wells syndrome, familial cold urtecaria and chronic infantile neurological cutaneous and articular syndrome are associated with mutations in the NALP3 (Cryopyrin) gene, which is the central platform of the proinflammatory caspase-1 activating complex, named the inflammasome.
|
17431422 |
2007 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The importance of these cytosolic receptors in immune regulation is underscored by the identification of mutations in cryopyrin/NALP3, which are genetically linked to human autoinflammatory disorders.
|
17442855 |
2007 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NLRP3 are known to be responsible for three rare autoinflammatory disorders.
|
19098911 |
2009 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic variations in Nalp1 and cryopyrin/Nalp3 are associated with autoinflammatory disorders and increased susceptibility to microbial infection.
|
19120479 |
2009 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.
|
20131254 |
2010 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder associated with NLRP3 gene mutations, which cause excessive caspase-1 activation and processing of interleukin (IL)-1β and IL-18.
|
22512814 |
2012 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The autoinflammatory disorder, Neonatal-onset Multisystem Inflammatory Disease (NOMID) is the most severe phenotype of disorders caused by mutations in CIAS1 that result in increased production and secretion of active IL-1β.
|
23226210 |
2012 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The cryopyrin-associated periodic fever syndrome (CAPS) is an autosomal dominant autoinflammatory disorder caused by mutations in the NLRP3 gene and is typified by recurrent episodes of systemic inflammation resulting in fever, urticarial rash and arthralgia.
|
26931528 |
2016 |
Autoinflammatory disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
In general, these autoinflammatory disorders have shown a clinical response to interleukin-1 (IL-1) antagonists, suggesting that the NALP3 inflammasome serves a critical role in their pathogenesis.
|
27187378 |
2016 |
Autoinflammatory disorder
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
|
29366613 |
2018 |
Autoinflammatory disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CAPS is an autosomal dominantly inherited autoinflammatory disorder associated with mutations in the NLRP3 gene, which ultimately lead to excessive production of interleukin-1β (IL-1β) and systemic inflammation.
|
30175395 |
2018 |
Autoinflammatory disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutated NLRP3 assembles a hyperactive inflammasome, which causes excessive secretion of interleukin (IL)-1β and IL-18 and, ultimately, a spectrum of autoinflammatory disorders known as cryopyrinopathies of which neonatal-onset multisystem inflammatory disease (NOMID) is the most severe phenotype.
|
30388107 |
2018 |
Autoinflammatory disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
MWS is a rare systemic autoinflammatory disorder that presents with a variety of ocular findings.
|
30556770 |
2020 |