Linked Life Data

15729559

Source:http://linkedlifedata.com/resource/pubmed/id/15729559

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2005-4-21
pubmed:abstractText
CD3delta deficiency is a recently identified rare form of severe combined immunodeficiency. We analysed the CD3delta gene in a Japanese family with severe combined immunodeficiency. The patients lacked T-cells with normal numbers of B-cells and natural killer cells in peripheral blood. We found a novel homozygous mutation in the splicing acceptor site of intron 2 (IVS2-2A --> G) in these patients. Analysis of patients' mononuclear cells revealed the CD3delta splicing abnormality. Chest X-ray films and computed tomography revealed small sized thymuses in these patients. CONCLUSION: The CD3delta gene should be analysed in patients with severe combined immunodeficiency lacking T-cells with normal B- and natural killer cells irrespective of the thymus size.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
164
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
311-4
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene.
pubmed:affiliation
Department of Paediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, 812-8582 Higashi-ku, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports