|
Cryopyrin-Associated Periodic Syndromes
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases linked to gain-of-function mutations in the NOD-like receptor family, pyrin domain containing 3 (NLRP3) gene, which cause uncontrolled IL-1β secretion.
|
31194989 |
2020 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Prototypic autoinflammatory syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome.
|
27856657 |
2016 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Familial mediterranean fever (FMF) and Cryopyrin associated periodic syndromes (CAPS) are two prototypical hereditary autoinflammatory diseases, characterized by recurrent episodes of fever and inflammation as a result of mutations in MEFV and NLRP3 genes encoding Pyrin and Cryopyrin proteins, respectively.
|
26161132 |
2015 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.090 |
Biomarker
|
disease |
BEFREE |
During the first 9 months, 117 patients (65 males, 52 females; age 1-21 years) have been recorded and classified as FMF (n=84), HIDS (n=1), TRAPS (n=3) and CAPS (n=1); clinically confirmed AID (n=5); SoJIA (n=22); and PFAPA (n=1).
|
21148158 |
2011 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Urticarial rash, one of the clinical manifestations characteristic of cryopyrin-associated periodic syndrome (CAPS), is caused by a mutation in the gene encoding for NLRP3 (nucleotide-binding oligomerization domain, leucine-rich repeats containing family, pyrin domain containing 3).
|
20179416 |
2010 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.090 |
Biomarker
|
disease |
BEFREE |
Autoinflammatory diseases constitute a large spectrum of monogenic diseases like FMF or cryopyrin-associated periodic syndromes (CAPS) and complex genetic trait diseases such as systemic onset juvenile idiopathic arthritis (SoJIA).
|
18984609 |
2009 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
The HPFs include familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), TNF receptor-associated syndrome (TRAPS), and cryopyrinopathies, which are attributable to mutations of the MEFV, MVK, TNFRSF1A, and CIAS1 genes, respectively.
|
19877056 |
2009 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Urticarial rash observed in cryopyrin-associated periodic syndrome (CAPS) caused by nucleotide-binding oligomerization domain-leucine-rich repeats containing pyrin domain 3 (NLRP3) mutations is effectively suppressed by anti-interleukin (IL)-1 treatment, suggesting a pathophysiological role of IL-1beta in the skin.
|
19364881 |
2009 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.090 |
Biomarker
|
disease |
BEFREE |
This new concept includes a broad number of disorders, but the spotlight has been focused for the past two years on periodic fevers (familial Mediterranean fever [FMF]; mevalonate kinase deficiency [MVK]; tumor necrosis factor [TNF] receptor-associated periodic syndrome [TRAPS]; cryopyrin-associated periodic syndrome [CAPS]), Crohn's disease and Blau syndrome, thanks to the recent understanding of their molecular basis.
|
15059033 |
2004 |