Linked Life Data

10899034

Source:http://linkedlifedata.com/resource/pubmed/id/10899034

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-10-2
pubmed:abstractText
The autoinflammatory syndromes are systemic disorders characterized by apparently unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T lymphocytes. One such illness, TNF-receptor-associated periodic syndrome (TRAPS), presents with prolonged attacks of fever and severe localized inflammation. TRAPS is caused by dominantly inherited mutations in TNFRSF1A (formerly termed TNFR1), the gene encoding the 55 kDa TNF receptor. All known mutations affect the first two cysteine-rich extracellular subdomains of the receptor, and several mutations are substitutions directly disrupting conserved disulfide bonds. One likely mechanism of inflammation in TRAPS is the impaired cleavage of TNFRSF1A ectodomain upon cellular activation, with diminished shedding of the potentially antagonistic soluble receptor. Preliminary experience with recombinant p75 TNFR-Fc fusion protein in the treatment of TRAPS has been favorable.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0952-7915
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
479-86
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
TNFRSF1A mutations and autoinflammatory syndromes.
pubmed:affiliation
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892-1820, USA.
pubmed:publicationType
Journal Article, Review