|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is caused by dominantly inherited mutations in TNFRSF1A (formerly termed TNFR1), the gene encoding the 55 kDa TNF receptor.
|
10899034 |
2000 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The coding region of TNFR1 was sequenced in 2 individuals with TRAPS (the propositus and her grandfather) and in 3 clinically unaffected relatives.
|
10902757 |
2000 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inflammatory disorder characterized by prolonged episodes of periodic fever and localized inflammation and dominantly inherited mutations in TNFRSF1A, the gene encoding the 55-kDa tumor necrosis factor receptor.
|
11115159 |
2000 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.
|
11175303 |
2001 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively.
|
11318938 |
2001 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is caused by dominant mutations in the 55 kDa TNF receptor gene (TNFRSF1A).
|
11722598 |
2001 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA sequencing of exons 1-6 of the TNFRSF1A gene (formerly TNFR1) was performed in the patient and his parents to determine the presence of the autosomal-dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS); informative markers spanning the TNFRSF1A locus were used to genotype all available members of the patient's family.
|
11817598 |
2002 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among hereditary fevers characterized by recurrent attacks of fever and organ localized inflammation, familial Mediterranean fever (FMF), and tumour necrosis factor receptor superfamily 1A (TNFRSF1A) receptor associated periodic syndrome (TRAPS) are diseases with identified genes that can be associated with renal amyloidosis of the AA type.
|
12105243 |
2002 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that results from mutations in TNFRSF1A, the gene that encodes the 55-kd tumor necrosis factor receptor.
|
12209524 |
2002 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence of TNFRSF1A shedding defects and low sTNFRSF1A levels in 3 families without a TNFRSF1A mutation indicates that the genetic basis among patients with "TRAPS-like" features is heterogeneous.
|
13130484 |
2003 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The genotype findings indicate that a relatively small number of genes may be involved in the clinical manifestation of HIDS, with low-penetrance TNFRSF1A variants possibly influencing the HIDS phenotype or MVK mutations contributing to TRAPS.
|
15188372 |
2004 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRAPS is the first condition for which naturally occurring mutations in a TNF receptor were found; the mutations affect the soluble TNFRSF1A gene in the 12p13 region.
|
15288852 |
2004 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular defects of TNFRSF1A was investigated in members of a family presenting with typical phenotypes of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) and in patients with the autoimmune disorders, systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA).
|
15492850 |
2004 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA sequence analysis revealed a heterozygous mutation in the TNFRSF1A (TNFa-receptor 1) gene (T50M) in both father and son causing tumor necrosis factor receptor-associated periodic syndrome (TRAPS).
|
15570662 |
2004 |
|
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 |
|
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.
|
16447098 |
2006 |
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Based on the clinical features and the TNFRSF1A mutation, both siblings were given a diagnosis of TRAPS.
|
17075277 |
2006 |
|
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 |
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 |
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 |
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 |
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 |
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 |