|
Familial cold urticaria
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|
|
Familial cold urticaria
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
|
11687797 |
2001 |
|
Familial cold urticaria
|
0.800 |
Biomarker
|
disease |
CTD_human |
In the present study, we report, in seven unrelated patients with CINCA syndrome, distinct missense mutations within the nucleotide-binding site of CIAS1, a gene encoding cryopyrin and previously shown to cause Muckle-Wells syndrome and familial cold urticaria.
|
12032915 |
2002 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
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 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We investigated whether patients with this disorder have mutations in CIAS1, the gene which causes Muckle-Wells syndrome and familial cold autoinflammatory syndrome, two dominantly inherited disorders with some similarities to NOMID/CINCA syndrome.
|
12483741 |
2002 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings confirm that mutations in the NALP3/CIAS1/PYPAF1 gene are associated with FCU and MWS, and that disease severity and clinical features may differ substantially within and between families.
|
12355493 |
2002 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we report, in seven unrelated patients with CINCA syndrome, distinct missense mutations within the nucleotide-binding site of CIAS1, a gene encoding cryopyrin and previously shown to cause Muckle-Wells syndrome and familial cold urticaria.
|
12032915 |
2002 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
|
11992256 |
2002 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations responsible for FCAS were identified in a novel gene (CIAS1), making it possible to confirm the diagnosis in most patients.
|
12602672 |
2003 |
|
Familial cold urticaria
|
0.800 |
Biomarker
|
disease |
BEFREE |
MMIG-1 shows >85% sequence similarity to human cryopyrin/PYPAF1, a causal gene for familial cold urticaria and Muckle-Wells syndrome.
|
14688236 |
2003 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We found a single heterozygous missense mutation (T1058C=L353P) in exon 3 of CIAS1 in all four families that is responsible for the large majority of FCAS cases described in the literature.
|
12522564 |
2003 |
|
Familial cold urticaria
|
0.800 |
Biomarker
|
disease |
CTD_human |
Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease.
|
12928894 |
2003 |
|
Familial cold urticaria
|
0.800 |
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 |
|
Familial cold urticaria
|
0.800 |
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 |
|
Familial cold urticaria
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cryopyrin, the protein that is altered in FCAS, is one of the adaptor proteins that activate caspase 1, resulting in release of interleukin 1.
|
15541451 |
2004 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
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 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in the CIAS1 gene cause a spectrum of autoinflammatory diseases such as familial cold autoinflammatory syndrome, FCAS, which is characterized by episodes of urticaria, arthralgia, fever and conjunctivitis after generalized exposure to cold.
|
15245511 |
2004 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
|
14630794 |
2004 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial cold autoinflammatory syndrome (FCAS) and the related autoinflammatory disorders, Muckle-Wells syndrome and neonatal onset multisystem inflammatory disease, are characterized by mutations in the CIAS1 gene that encodes cryopyrin, an adaptor protein involved in activation of IL-converting enzyme/caspase-1.
|
16081838 |
2005 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among hereditary inflammatory disorders, Muckle-Wells syndrome, chronic infantile neurological cutaneous and articular syndrome (CINCA), and familial cold urticaria have recently been shown to be caused by dominantly inherited mutations in the CIAS1 gene.
|
15801036 |
2005 |
|
Familial cold urticaria
|
0.800 |
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 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CIAS1, the gene that codes for cryopyrin, is mutated in FCAS.
|
17320940 |
2007 |
|
Familial cold urticaria
|
0.800 |
Biomarker
|
disease |
BEFREE |
A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.
|
17284928 |
2007 |
|
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene are associated with a spectrum of autoinflammatory diseases, including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurologic, cutaneous, articular syndrome, also known as neonatal-onset multisystem inflammatory disease.
|
17164343 |
2007 |