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 |
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 |
TNF receptor-associated periodic fever syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease caused by mutations of TNF receptor superfamily member 1 A (TNFRSF1A) gene.
|
31774538 |
2019 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is caused by heterozygote mutations in TNFRSF1A, characterized by recurrent inflammatory attacks.
|
31586650 |
2019 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The cryopyrin associated periodic syndrome (CAPS), the hyper IgD syndrome (HIDS) and the TNF receptor-associated periodic syndrome (TRAPS), are autoinflammatory conditions associated with mutations in the NLRP3, MVK and TNFRSF1A genes, respectively.
|
30418111 |
2019 |
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 |
Biomarker
|
disease |
BEFREE |
Canakinumab downregulated the TRAPS-causing gene (TNF super family receptor 1A (TNFRSF1A)), the drug-target gene (interleukin (IL)-1B) and other inflammation-related genes (eg, MAPK14).
|
27474763 |
2017 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
She was found to have a previously unreported mutation, Thr90Pro, in the TNFRSF1A gene associated with TRAPS.
|
28427379 |
2017 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
More than 70 different TNFRSF1A mutations have been reported to date, and as consequence of its genetic heterogeneity, TRAPS shows a variable phenotypic expression.
|
27990755 |
2017 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a multisystemic autoinflammatory condition associated with heterozygous TNFRSF1A mutations, presenting with a variety of clinical symptoms, many of which yet unexplained.
|
27310036 |
2017 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.
|
26992170 |
2016 |
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 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the clinical and genetic features of patients with TNFRSF1A variants in Japan using data obtained from a nationwide survey conducted by the Ministry of Health, Labor, and Welfare of Japan study group for tumor necrosis factor receptor-associated periodic syndrome (TRAPS).
|
27332769 |
2016 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor-associated periodic syndrome is associated with mutations in the tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A) gene which decreases the level of soluble tumor necrosis factor receptor-1 (TNFR1) leading to neutralization of tumor necrosis factor (TNF)-α.
|
27187378 |
2016 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation (c.262 T > C; S59P) in the TNFRSF1A gene at residue 88 of the mature protein was recently identified in our laboratory in an adult TRAPS patient.
|
25888769 |
2015 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to investigate the role of cell surface TNFR1 in TRAPS, and the contribution of TNF-dependent and TNF-independent mechanisms to the production of cytokines.
|
26202849 |
2015 |
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 |
AlteredExpression
|
disease |
BEFREE |
To describe a new exon 2-spliced transcript-TNFR1-d2-and the impact of these three single nucleotide polymorphisms on exon 2 splicing, transcriptional activity of TNFRSF1A and TRAPS phenotype.
|
23505244 |
2014 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results revealed a heterozygous T61I mutation in the TNFRSF1A gene that encodes tumor necrosis factor-α receptor and is responsible for TRAPS.
|
24835548 |
2014 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, autophagy impairment may account for the pathogenic effects of TNFRSF1A mutations, thus inducing inflammation in TRAPS.
|
24706103 |
2014 |
TNF receptor-associated periodic fever syndrome (TRAPS)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TNFRSF1A sequence variants in the TRAPS patients included p.R121Q (R92Q) and p.C99G (C70G); one patient had a rare occurrence of a concurrent p.V726A/-MEFV mutation.
|
24233262 |
2014 |
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 |
Biomarker
|
disease |
BEFREE |
This study reveals the pleiotropic effect of a TRAPS-associated mutant form of TNFR1 on inflammatory signaling pathways (a proinflammatory signalome), which is consistent with the variable and limited efficacy of cytokine-blocking therapies in TRAPS.
|
24668260 |
2014 |
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 |