|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists.
|
17360963 |
2007 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
|
10199409 |
1999 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
|
10199409 |
1999 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The coding region of TNFR1 was sequenced in 2 individuals with TRAPS (the propositus and her grandfather) and in 3 clinically unaffected relatives.
|
10902757 |
2000 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family.
|
14610673 |
2004 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The presence of TNFRSF1A shedding defects and low sTNFRSF1A levels in 3 families without a TNFRSF1A mutation indicates that the genetic basis among patients with "TRAPS-like" features is heterogeneous.
|
13130484 |
2003 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
|
11443543 |
2001 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The TNFRSF1A R92Q mutation behaves as a genetic risk factor for MS and other inflammatory diseases, including TRAPS.
|
22059991 |
2011 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
MGD |
Here we show that mutant TNFR1 accumulates intracellularly in peripheral blood mononuclear cells of TRAPS patients and in multiple cell types from two independent lines of knockin mice harboring TRAPS-associated TNFR1 mutations.
|
20457915 |
2010 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
MGD |
TNF receptor-deficient mice reveal divergent roles for p55 and p75 in several models of inflammation.
|
9551933 |
1998 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up.
|
24393624 |
2014 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.
|
16508982 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Symptoms related to tumor necrosis factor receptor 1-associated periodic syndrome, multiple sclerosis, and severe rheumatoid arthritis in patients carrying the TNF receptor superfamily 1A D12E/p.Asp41Glu mutation.
|
23322460 |
2013 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis.
|
23745996 |
2013 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.
|
18512793 |
2008 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment.
|
19917181 |
2010 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting with refractory chronic arthritis.
|
25936627 |
2016 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.
|
23965844 |
2014 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TRAPS-associated TNFRI mutants induce the expression of multiple genes encoding inflammatory molecules, cellular receptors, transcription factors, and regulators of apoptosis in endothelial cells that require the cytoplasmic signaling properties of the receptor.
|
19116900 |
2009 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed a mutation in the TNFRSF1A gene, and the patient was diagnosed with TRAPS-associated bilateral panuveitis.
|
29256170 |
2019 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified two TRAPS patients in one family harboring a novel p.Gly87Val (G87V) mutation in addition to a p.Thr90Ile (T90I) mutation in TNFRSF1A.
|
31429073 |
2019 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, we have identified a set of variables related to the probability of detecting gene mutations in MEFV, responsible for familial Mediterranean fever, and TNFRSF1A, responsible for tumor necrosis factor receptor-associated periodic syndrome.
|
22878268 |
2012 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family.
|
14610673 |
2004 |