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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene.
|
16449034 |
2006 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
We describe a French family presenting an intrafamilial overlapping clinical phenotype of CINCA and Muckle-Wells syndrome, caused by a mutation in CIAS1 gene.
|
15801036 |
2005 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
UNIPROT |
According to this model, most of the mutations known to affect residues of the NBD are clustered on one side of this domain in a region predicted to participate in intermolecular contacts, suggesting that this model is likely to be biologically relevant and that defects in nucleotide binding, nucleotide hydrolysis, or protein oligomerization may lead to the functional dysregulation of cryopyrin in the MWS, FCU, and CINCA/NOMID disorders.
|
14630794 |
2004 |
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 |
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 |
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 |
Further studies are needed to confirm the involvement of mutations of the CIAS1 gene in CINCA syndrome.
|
12673085 |
2003 |
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
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 |
Biomarker
|
disease |
CTD_human |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |