|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
To report a childhood case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) carrying the R92Q variant with a vision-threatening bilateral panuveitis.
|
29256170 |
2019 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant.
|
27990755 |
2017 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
Clinical observations have identified a group of MS patients carrying the R92Q mutation who have additional TRAPS</span> symptoms.
|
22059991 |
2011 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
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 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
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 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
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 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
To define the frequency of the R92Q tumor necrosis factor receptor-associated periodic syndrome (TRAPS) mutation in patients with familial Mediterranean fever (FMF) and to study the role of this mutation in FMF.
|
20506103 |
2010 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
Our report expands the spectrum of TNFRSF1A mutations associated with TRAPS, adding further evidence for possible additive effects of a low-penetration R92Q and cysteine residue mutations, and confirms etanercept as an efficacious treatment alternative.
|
18408954 |
2008 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
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 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
BEFREE |
The R92Q mutation does not appear to be significantly associated with TRAPS.
|
16508982 |
2006 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
UNIPROT |
Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.
|
14610673 |
2004 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
UNIPROT |
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
|
13130484 |
2003 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
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 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.
|
10902757 |
2000 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.900 |
GeneticVariation |
UNIPROT |
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
|
10199409 |
1999 |
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
G |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
T |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs4149584
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
T |
0.900 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs104895218
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.850 |
GeneticVariation |
BEFREE |
TNFR1-associated signaling pathway intermediates were examined in this model, and in PBMCs from C33Y TRAPS patients and healthy controls.
|
24668260 |
2014 |
|
rs104895218
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.850 |
GeneticVariation |
BEFREE |
Monoclonal antibodies that differentially bound to C33Y TNFRSF1A were used to investigate the distribution of WT and mutant TNFRSF1A in TRAPS patients with the C33Y mutation.
|
17665435 |
2007 |
|
rs104895218
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.850 |
GeneticVariation |
BEFREE |
The cytokine profile of C33Y TRAPS differs from that of a typical autoimmune inflammatory condition such as rheumatoid arthritis, as only IL-6 and IL-8 were elevated in C33Y TRAPS patients, as distinct from a generalized elevation of pro-inflammatory cytokines.
|
16287931 |
2006 |
|
rs104895218
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.850 |
GeneticVariation |
UNIPROT |
Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.
|
14610673 |
2004 |
|
rs104895218
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.850 |
GeneticVariation |
BEFREE |
In particular, dermal fibroblasts, but not leukocytes, from C33Y TRAPS patients demonstrated reduced shedding of TNFRSF1A.
|
15334481 |
2004 |
|
rs104895218
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.850 |
GeneticVariation |
BEFREE |
Evidence for nonallelic heterogeneity in TRAPS-like conditions was found: 3 members of the "prototype familial Hibernian fever" family did not possess C33Y, present in 9 other affected members.
|
13130484 |
2003 |
|
rs104895218
|
TNFRSF1A
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
|
0.850 |
GeneticVariation |
UNIPROT |
Evidence for nonallelic heterogeneity in TRAPS-like conditions was found: 3 members of the "prototype familial Hibernian fever" family did not possess C33Y, present in 9 other affected members.
|
13130484 |
2003 |