Linked Life Data

7671314

Source:http://linkedlifedata.com/resource/pubmed/id/7671314

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1995-10-19
pubmed:abstractText
During ontogeny, T lymphocytes are selected for CD4 or CD8 expression in part by their ability to signal properly through the TCR. Transmission of such signals requires the activation of specific cytoplasmic protein tyrosine kinases (PTKs) which lead to T-cell activation through poorly understood mechanisms. Recently, mutations in one such PTK, called ZAP-70, have been shown to be responsible for a rare, autosomal recessive form of severe combined immunodeficiency (SCID) in humans. This distinctive SCID syndrome is characterized by the selective absence of peripheral CD8+ T cells and by abundant circulating CD4+ T cells that fail to respond to TCR-mediated stimuli in vitro. In this report, we describe in detail the clinical and laboratory findings in one patient with ZAP-70 deficiency and discuss the insights provided by this disorder into the pathways of TCR signal transduction and T-cell development.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0008-8749
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
165
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
110-7
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:7671314-B-Lymphocytes, pubmed-meshheading:7671314-CD4-Positive T-Lymphocytes, pubmed-meshheading:7671314-CD8-Positive T-Lymphocytes, pubmed-meshheading:7671314-Female, pubmed-meshheading:7671314-Humans, pubmed-meshheading:7671314-Immunophenotyping, pubmed-meshheading:7671314-Infant, pubmed-meshheading:7671314-Interleukin-2, pubmed-meshheading:7671314-Lymphocyte Activation, pubmed-meshheading:7671314-Lymphocyte Specific Protein Tyrosine Kinase p56(lck), pubmed-meshheading:7671314-Lymphocytes, pubmed-meshheading:7671314-Protein-Tyrosine Kinases, pubmed-meshheading:7671314-Proto-Oncogene Proteins, pubmed-meshheading:7671314-Proto-Oncogene Proteins c-fyn, pubmed-meshheading:7671314-Receptors, Antigen, T-Cell, pubmed-meshheading:7671314-Severe Combined Immunodeficiency, pubmed-meshheading:7671314-ZAP-70 Protein-Tyrosine Kinase
pubmed:year
1995
pubmed:articleTitle
Severe combined immunodeficiency with absence of peripheral blood CD8+ T cells due to ZAP-70 deficiency.
pubmed:affiliation
Department of Pediatrics, University of California, San Francisco 94143, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't