Journal article
Defective expression of p56lck in an infant with severe combined immunodeficiency
The Journal of clinical investigation, Vol.102(2), pp.421-429
07/15/1998
DOI: 10.1172/JCI3205
PMCID: PMC508901
PMID: 9664084
Abstract
Severe combined immune deficiency (SCID) is a heterogeneous disorder characterized by profound defects in cellular and humoral immunity. We report here an infant with clinical and laboratory features of SCID and selective CD4 lymphopenia and lack of CD28 expression on CD8(+) T cells. T cells from this patient showed poor blastogenic responses to various mitogens and IL-2. Other T cell antigen receptor- induced responses, including upregulation of CD69, were similarly inhibited. However, more proximal T cell antigen receptor signaling events, such as anti-CD3 induced protein tyrosine phosphorylation, phosphorylation of mitogen-associated protein kinase, and calcium mobilization were intact. Although p59fyn and ZAP-70 protein tyrosine kinases were expressed at normal levels, a marked decrease in the level of p56lck was noted. Furthermore, this decrease was associated with the presence of an alternatively spliced lck transcript lacking the exon 7 kinase encoding domain. These data suggest that a deficiency in p56lck expression can produce a SCID phenotype in humans.
Details
- Title: Subtitle
- Defective expression of p56lck in an infant with severe combined immunodeficiency
- Creators
- Frederick D Goldman - Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA. frederick-goldman@uiowa.eduZuhair K Ballas - Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA. frederick-goldman@uiowa.eduBrian C Schutte - Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA. frederick-goldman@uiowa.eduJohn Kemp - Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA. frederick-goldman@uiowa.eduClay Hollenback - Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA. frederick-goldman@uiowa.eduNelly Noraz - Institut de Génétique Moléculaire de MontpellierNaomi Taylor - Institut de Génétique Moléculaire de Montpellier
- Resource Type
- Journal article
- Publication Details
- The Journal of clinical investigation, Vol.102(2), pp.421-429
- DOI
- 10.1172/JCI3205
- PMID
- 9664084
- PMCID
- PMC508901
- ISSN
- 0021-9738
- eISSN
- 1558-8238
- Language
- English
- Date published
- 07/15/1998
- Academic Unit
- Pathology; Immunology; Internal Medicine
- Record Identifier
- 9984094623302771
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