|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.
|
15801036 |
2005 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genomic DNA from 13 patients with classic manifestations of NOMID/CINCA syndrome and their available parents was screened for CIAS1 mutations by automated DNA sequencing.
|
12483741 |
2002 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The clinical data suggested a diagnosis of familial cold-induced autoinflammatory syndrome in 3 families, CINCA/NOMID syndrome in 3 others, and a possible Muckle-Wells syndrome, whereas mutational analysis showed different CIAS1/PYPAF1/NALP3 missense mutations in 5 families.
|
15593220 |
2004 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.
|
15334500 |
2004 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Infevers database (http://fmf.igh.cnrs.fr/infevers/) was established in 2002 to provide investigators with access to a central source of information about all sequence variants associated with periodic fevers: Familial Mediterranean fever (FMF), TNF Receptor Associated Periodic Syndrome (TRAPS), Hyper IgD Syndrome (HIDS), Familial Cold Autoinflammatory Syndrome/Muckle-Wells Syndrome/Chronic Infantile Neurological Cutaneous and Articular Syndrome (FCAS/MWS/CINCA).
|
15300846 |
2004 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study is the first, to our knowledge, to demonstrate defects in neutrophil chemotaxis and p38 MAPK signaling in a patient with NOMID and Muckle-Wells syndrome and a cryopyrin mutation.
|
16279571 |
2005 |
|
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 |
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 |
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 |
We describe herein 7 new mutations in 13 unrelated patients with CINCA syndrome and identify mutational hotspots in CIAS1 on the basis of all mutations described to date.
|
14630794 |
2004 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genomic DNA from 13 patients with classic manifestations of NOMID/CINCA syndrome and their available parents was screened for CIAS1 mutations by automated DNA sequencing.
|
12483741 |
2002 |
|
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 |
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
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 |
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 |
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 |
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 |
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 |
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 |