Condition: TNF receptor-associated periodic fever syndrome (TRAPS)


rs104895217 in TNFRSF1A gene and TNF receptor-associated periodic fever syndrome (TRAPS) PMID 11443543 2001 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.

PMID 10902757 2000 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.

PMID 10199409 1999 Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

PMID 14610673 2004 Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.

PMID 13130484 2003 Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.

PMID 13130484 2003 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.

PMID 24393624 2014 The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up.

PMID 23965844 2014 The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

PMID 25936627 2016 Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting with refractory chronic arthritis.

PMID 14610673 2004 Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family.

PMID 19917181 2010 Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment.

PMID 23745996 2013 Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis.

PMID 23322460 2013 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.

PMID 16508982 2006 Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.

PMID 18512793 2008 A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.