|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed a mutation in the TNFRSF1A gene, and the patient was diagnosed with TRAPS-associated bilateral panuveitis.
|
29256170 |
2019 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS) is a very rare, hereditary, auto-inflammatory disorder caused by a genetic mutation within the tumor necrosis factor receptor superfamily member one-A (TNFRSF1A) gene, resulting in unregulated, systemic inflammation.
|
30931187 |
2019 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
She was found to have a previously unreported mutation, Thr90Pro, in the TNFRSF1A gene associated with TRAPS.
|
28427379 |
2017 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe 3 families (8 subjects) with the TNFRSF1A D12E substitution and TRAPS-related symptoms, in 4 cases associated with the autoimmune diseases multiple sclerosis and rheumatoid arthritis.
|
23322460 |
2013 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is caused by mutations in the gene encoding the TNF Receptor Super Family 1A (TNFRSF1A) on chromosome 12p13.
|
22884554 |
2012 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To date, at least 40 different TNFRSF1A mutations have been identified, but few patients with symptoms highly suggestive of TRAPS with no mutations in the TNFRSF1A gene have recently been described, thus suggesting that not all mutations are yet known or that alternative mechanisms might be involved in the pathogenesis of the disease.We report on three such patients here.
|
20473499 |
2012 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
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 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We aim to determine the incidence of TRAPS and the spectrum of mutations in the TNFRSF1A gene, and to give a brief survey of clinical signs.
|
19541728 |
2009 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor (TNFR)-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory condition caused by mutations in the TNFRSF1A gene.
|
19180495 |
2009 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because NF-kappaB is the major intracellular signaling component inducing secretion of proinflammatory cytokines, we sought to determine whether differences in the clinical phenotype of patients with TRAPS may be attributable to variable effects of TNFRSF1A mutations on TNFRI expression, localization, or NF-kappaB activity.
|
18163488 |
2008 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor 1-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited autoinflammatory disorder resulting from mutations in the TNFRSF1A gene, which encodes the p55 receptor for tumor necrosis factor alpha.
|
19029521 |
2008 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Overlap syndrome between FMF and TRAPS in a patient carrying MEFV and TNFRSF1A mutations.
|
17949559 |
2008 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Exploitation of the differential binding properties of these mAb indicated that mutant (as distinct from WT) TNFRSF1A showed abnormal intracellular retention in the neutrophils of TRAPS patients with the C33Y mutation, with little if any expression of mutant TNFRSF1A on the cell surface or as soluble receptor in plasma.
|
17665435 |
2007 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Six of 25 adult MS patients (24%) with symptoms suggestive of TRAPS were found to carry the identical arginine-to-glutamine substitution at amino acid position 92 (R92Q or p.Arg121Gln) encoded by exon 4 of the TNFRSF1A gene.
|
17665448 |
2007 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To the best of our knowledge, we report the first case of compound heterozygosity for 2 TNFRSF1A gene mutations, including a novel one that causes a severe form of TRAPS that responds to anti-inflammatory treatment.
|
16401480 |
2006 |