Familial cold urticaria
|
0.800 |
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 |
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 |
The NLRP3 mutation A439V is associated with a heterogeneous clinical spectrum of familial cold autoinflammatory syndrome/MWS-overlap syndrome.
|
27134254 |
2016 |
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 |
Familial cold autoinflammatory syndrome (FCAS) is caused by mutations in the CIAS1 gene, leading to excessive secretion of interleukin-1beta (IL-1beta), which is associated with cold-induced fevers, joint pain, and systemic inflammation.
|
18668591 |
2008 |
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 |
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 |
Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations.
|
18174231 |
2008 |
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 |
CIAS1, the gene that codes for cryopyrin, is mutated in FCAS.
|
17320940 |
2007 |
Familial cold urticaria
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Several disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and neonatal onset multisystem inflammatory disorder (NOMID), are associated with mutations in a common gene, CIAS-1.
|
17927785 |
2008 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
MGD |
|
|
|
Familial cold urticaria
|
0.800 |
Biomarker
|
disease |
CTD_human |
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
|
25217959 |
2014 |