|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).
|
30066283 |
2019 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
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 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
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 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Thus, activation of NLRP3 in hematopoietic cells initiates IL-1β-driven paracrine cascades, which promote abnormal growth plate development in NOMID mice.
|
28687790 |
2017 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Additional phenotypes traditionally associated with NLRP3 mutations like familial cold autoinflammatory syndrome and neonatal onset multisystem inflammatory disease (NOMID), have now also been associated with gain-of-function NLRC4 mutations.
|
28957823 |
2017 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the genetic background of a patient with neonatal-onset multisystem inflammatory disease (NOMID) with no NLRP3 mutation.
|
27788288 |
2017 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cryopyrin-associated periodic syndromes (CAPS) is a rare group of autoinflammatory disorders that includes familial cold autoinflammatory syndrome or FCAS, Muckle-wells syndrome or MWS, and neonatal-onset multisystem inflammatory disease or NOMID.
|
26140469 |
2016 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We herein show somatic NLRP3 mosaicism underlying MWS, probably representing a shared genetic mechanism in CAPS not restricted to CINCA syndrome.
|
24326009 |
2015 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study was undertaken to investigate the effect of mutated NLRP3 on chondrocytes using induced pluripotent stem cells (iPSCs) from patients with NOMID.
|
25302486 |
2015 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first description of somatic NLRP3 mosaicism detected using whole-exome sequencing in a "mutation-negative" patient with CINCA syndrome.
|
24431285 |
2014 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.
|
24952504 |
2014 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
|
25217959 |
2014 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
These findings provide direct evidence linking a NOMID-associated NLRP3-activating mutation to abnormalities of postnatal skeletal growth and bone remodeling.
|
22558291 |
2012 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We recently found a high incidence of NLRP3 somatic mosaicism in apparently mutation-negative CINCA/NOMID patients using subcloning and subsequent capillary DNA sequencing.
|
22279087 |
2012 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We also confirmed that the existing anti-inflammatory compounds inhibited the abnormal IL-1β secretion, indicating that mutant iPS-MPs are applicable for drug screening for CINCA syndrome and other NLRP3-related inflammatory conditions.
|
22723549 |
2012 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
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 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Subcloning and sequencing of NLRP3 was performed in these mutation-negative NOMID/CINCA syndrome patients and their healthy relatives.
|
21702021 |
2011 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, and arthritis (CINCA) syndrome is the most severe clinical phenotype in the spectrum of cryopyrin- (NLRP3/NALP3) associated periodic syndromes (CAPS).
|
21538043 |
2011 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cryopyrin-associated periodic syndrome is a category of autoinflammatory disorders caused by mutations of the NLRP3 gene, with chronic infantile neurologic cutaneous and articular syndrome being the severest clinical phenotype.
|
19931168 |
2009 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cryopyrinopathies are a group of conditions associated to mutations of the gene Cryopyrin that are responsible for a spectrum of diseases (familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome) characterized by a chronic or recurrent systemic inflammation variably associated with a number of clinical features, such as urticarial-like rash, arthritis, sensorineural deafness, and central nervous system and bone involvement.
|
18368292 |
2008 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
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 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The disorder was previously shown to be caused by mutations in CIAS1, encoding a pyrin-like protein also involved in the pathogenesis of Muckle-Wells syndrome (MWS), and chronic infantile neurological cutaneous and articular syndrome (CINCA).
|
17284928 |
2007 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We tested for CIAS1 mutations in 22 patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome, 12 with Muckle-Wells syndrome (MWS), 18 with familial cold-induced autoinflammatory syndrome (FCAS), and 3 probands with MWS/FCAS.
|
17393462 |
2007 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |