|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
the hyper expression of the activation antigen CD10/NEP in neutrophils from these three cases of CINCA, as compared to JIA patients and healthy controls, irrespective of the presence of mutations in CIAS1, could be a marker of the inflammatory disorder typical of some patients with CINCA syndrome.
|
12928894 |
2003 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The production of interleukin-1beta (IL-1beta) by peripheral blood mononuclear cells (PBMCs) was measured by enzyme-linked immunosorbent assay, and the ability of the mutant CIAS1 gene to enhance ASC-dependent NF-kappaB activation was assessed to confirm that the mutations of CIAS1 found were responsible for the patient's clinical manifestations of the CINCA syndrome.
|
16255047 |
2005 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with the autoinflammatory diseases Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset multisystem inflammatory disease (NOMID), which is also known as chronic infantile neurologic, cutaneous, articular (CINCA) syndrome.
|
14872505 |
2004 |
|
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 |
Here, we examine two of these newly identified proteins, pyrin (also called marenostrin, product of the familial Mediterranean fever locus, MEFV) and cryopyrin (product of the CAIS1 locus, and mutated in familial cold urticaria, Muckle Wells syndrome and chronic infantile neurological cutaneous and articular syndrome).
|
12371636 |
2003 |
|
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously).
|
16899778 |
2006 |
|
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 |
BEFREE |
Familial Mediterranean Fever (FMF), TRAPS (TNF Receptor 1A Associated Syndrome), HIDS (HyperIgD Syndrome), MWS (Muckle-Wells Syndrome)/FCU (Familial Cold Urticaria)/CINCA (Chronic Infantile Neurological Cutaneous and Articular Syndrome).
|
12520003 |
2003 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is a severe inflammatory disease that recently was associated with mutations in CIAS1.
|
15476236 |
2004 |
|
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 |
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 |
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 |
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 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Pyrin/marenostrin protein is mutated in familial Mediterranean fever, while mutations in a related protein, cryopyrin, are associated with Muckle-Wells/familial cold urticaria and chronic infantile neurologic cutaneous and articular syndrome.
|
14752334 |
2002 |
|
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 |
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 |
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 |
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 |