|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |
|
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 |
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 |
BEFREE |
Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese.
|
15492850 |
2004 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Four Greek patients with TRAPS-like clinical features were screened for TNFRSF1A mutations by sequencing exons 2, 3 and 4.
|
31562507 |
2019 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing revealed a missense mutation in exon 3 in the second extracellular domain of TNFRSF1A, resulting in a substitution of cysteine with arginine at residue 73 (C73R), confirming the diagnosis of TNF receptor-associated periodic syndrome (TRAPS).
|
15228183 |
2004 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TNF-receptor associated periodic syndrome (TRAPS), on the other hand, is the most frequent autosomal dominantly inherited periodic fever syndrome due to mutations in exons 2-4 and 6 of the TNFRSF1A gene on chromosome 12p13.2.
|
15657603 |
2005 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The drugs were screened at four 10-fold concentrations on cell lines expressing both wild-type (WT) TNFR1 and TRAPS-associated C33Y mutant TNFR1, or WT TNFR1 alone; signalling molecule levels were then determined in cell lysates by the reverse-phase protein microarray.
|
28860008 |
2017 |
|
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 |
Biomarker
|
disease |
BEFREE |
Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation.
|
16142754 |
2005 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease associated with heterozygous mutations in TNF receptor 1 (TNFR1).
|
16684962 |
2006 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic evaluation of all members of her family with a TRAPS index patient disclosed the T50M mutation in TNFRSF1A.
|
16308343 |
2006 |
|
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 |
TRAPS is caused by mutations in the gene encoding the TNF Receptor Super Family 1A (TNFRSF1A) on chromosome 12p13.
|
16447098 |
2006 |
|
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 |
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 |
TNF-receptor-associated periodic syndrome (TRAPS) is a hereditary fever syndrome that results from mutations in the TNF-receptor superfamily 1A gene (TNFRSF1A).
|
16030167 |
2005 |
|
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 |