Linked Life Data

17572155

Source:http://linkedlifedata.com/resource/pubmed/id/17572155

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-7-20
pubmed:abstractText
Recombinase activating genes 1/2 (RAG1/2) deficiency, critical to initiate gene rearrangement encoding lymphocyte receptors, causes T-B- severe combined immunodeficiency (SCID) and Omenn syndrome (OS), characterised by erythroderma, hepatosplenomegaly, lymphadenopathy, activated, clonal T cell expansions with restricted TCRVbeta family usage, and opportunistic infection. Many features of OS resemble graft-versus-host disease (GvHD). Frequency of GvHD-associated cytokine gene polymorphisms (CGPs) with OS was investigated to explain phenotypic differences between T-B- SCID and OS. Allele frequencies of IFNgamma T874A, IFNgamma-R1, TNFalphad microsatellites, IL-10 promoter region C592A and A1082G, IL-4 C-590T, IL-6 G-174C, IL-4R Q+576R, IFNgamma-R1 T-56C, TNFalphaRII 196 M/R single-nucleotide polymorphisms and IL-1Ra intron 1 VNTR were examined in 33 OS and 23 SCID patients. No significant differences in allele frequencies were found between the groups, and no trends identified. The mechanisms determining the OS or T-B-NK+ SCID phenotype remain to be determined.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1521-6616
pubmed:author
pubmed:issnType
Print
pubmed:volume
124
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
165-9
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
pubmed:affiliation
Institute of Cellular Medicine, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't