|
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 |
GeneticVariation
|
disease |
BEFREE |
Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is caused by TNFRSF1A mutations, known to induce intracellular retention of the TNFα receptor 1 (TNFR1) protein, defective TNFα-induced apoptosis, and production of reactive oxygen species.
|
23117241 |
2013 |
|
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 |
The identification of TNFRSF1A mutations as the genetic cause of TRAPS coincided with the wider use of biological agents in medicine and raised the possibility that blocking TNF could potentially represent the primary therapeutic goal in TRAPS, thus disclosing new treatment choices for this complex disease.
|
22884554 |
2012 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Among them it is recognized the TNF receptor associated periodic syndrome (TRAPS) caused by mutations in the TNFRSF1A gene and characterized by symptoms such as recurrent high fevers, rash, abdominal pain, arthralgia and myalgia.
|
21567205 |
2012 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient.
|
22281876 |
2012 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Typical and severe tumor necrosis factor receptor-associated periodic syndrome in the absence of mutations in the TNFRSF1A gene: a case series.
|
20473499 |
2012 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory disease caused by heterozygous mutations in the TNFRSF1A gene encoding for the TNF receptor 1 (TNFR1).
|
21284532 |
2012 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
No TNFRSF1A mutation has been identified in a proportion of patients with TRAPS-like phenotype.
|
21459945 |
2011 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
BEFREE |
The frequency of typical TRAPS-related clinical manifestations was significantly lower and the impact of the disease on HRQOL was significantly reduced in patients with the R92Q mutation compared with TRAPS patients carrying structural mutations of TNFRSF1A.
|
21225694 |
2011 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This review focuses on mutations causing four different diseases, which represent distinct pathological mechanisms that can exist within these superfamilies: autoimmune lymphoproliferative syndrome (ALPS; FAS mutations), common variable immunodeficiency (CVID; TACI mutations), tumor necrosis factor receptor associated periodic syndrome (TRAPS; TNFR1 mutations) and hypohidrotic ectodermal dysplasia (HED; EDA1/EDAR mutations).
|
21724465 |
2011 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with the autoinflammatory disease Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS) who suffer from demyelinating disease have been described, and one of the milder TRAPS mutations (R92Q in the TNFRSF1A gene) has been suggested as a risk factor for multiple sclerosis (MS).
|
21565411 |
2011 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of a 58-year-old patient with TRAPS caused by the low-penetrance R92Q mutation in TNFRSF1A gene.
|
21869706 |
2011 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Given the pathological similarities between Behçet's disease (BD), Familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Crohn's disease (CD) we evaluated the frequency of mutations and polymorphisms in MEFV, TNFRSF1A and CARD15 in Israeli BD patients of either Jewish or Arab descent.
|
21385537 |
2011 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Abstract A host of clinical scenarios can be depicted in hereditary autoinflammatory diseases, and the cardiovascular system can also be involved especially in familial Mediterranean fever (FMF), caused by mutations in the MEFV gene, and tumour necrosis factor receptor-associated periodic syndrome (TRAPS), caused by mutations in the TNFRSF1A gene.
|
21284530 |
2011 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory condition caused by mutations in the TNFRSF1A gene which encodes the tumor necrosis factor (TNF) receptor, TNFR1.
|
21420073 |
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 |
GeneticVariation
|
disease |
BEFREE |
The identification of TNFRSF1A mutations as the genetic cause of TRAPS coincided with the wider use of biological agents in medicine and raised the possibility that blocking TNF could potentially represent the primary therapeutic goal in TRAPS, thus disclosing new treatment choices for this complex disease.
|
20943039 |
2010 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome.
|
20346247 |
2010 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because the pathomechanism of TRAPS may involve aberrant TNF-mediated intracellular signalling, we examined phosphorylation levels of nuclear factor kappaB (NF-kappaB) and p38 in response to TNF in 10 patients with three different TNFRSF1A mutations (C73R, C88Y and F112I).
|
20071450 |
2010 |
|
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 |
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 |
TNF receptor-associated periodic syndrome (TRAPS) is a highly polymorphic autoinflammatory syndrome related to mutations in the TNFRSF1A gene encoding the type 1 TNF receptor.
|
19796978 |
2009 |