Linked Life Data

14610673

Source:http://linkedlifedata.com/resource/pubmed/id/14610673

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-12-16
pubmed:abstractText
Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited disorder characterised by recurrent episodes of sustained fever. Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family. The mutation disrupts one of the three disulphide bonds in cysteine-rich domain 2 of TNF receptor 1, similar to the reported mutations of the same cysteine residue (C70R, C70Y). This is the first confirmed case of TRAPS in an eastern Asian population. The patient's asymptomatic sister as well as their mother with mild symptoms had the same mutation. CONCLUSION: Although tumour necrosis factor receptor-associated periodic syndrome has been reported mainly in families of northern European ancestry, our case suggests the need to include it in the differential diagnosis of patients with recurrent fever even in ethnic groups in which no case has been documented.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
163
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
30-2
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.
pubmed:affiliation
Department of Paediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higahi-ku, 812-8582 Fukuoka, Japan. kkusuhar@pediatr.med.kyushu-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports