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T(−)B(+)NK(+) severe combined immunodeficiency caused by complete deficiency of the CD3ζ subunit of the T-cell antigen receptor complex

CD3ζ is a subunit of the T-cell antigen receptor (TCR) complex required for its assembly and surface expression that also plays an important role in TCR-mediated signal transduction. We report here a patient with T(−)B(+)NK(+) severe combined immunodeficiency (SCID) who was homozygous for a single C...

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Bibliografiske detaljer
Main Authors: Roberts, Joseph L., Lauritsen, Jens Peter H., Cooney, Myriah, Parrott, Roberta E., Sajaroff, Elisa O., Win, Chan M., Keller, Michael D., Carpenter, Jeffery H., Carabana, Juan, Krangel, Michael S., Sarzotti, Marcella, Zhong, Xiao-Ping, Wiest, David L., Buckley, Rebecca H.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Hematology 2007
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852234/
https://ncbi.nlm.nih.gov/pubmed/17170122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2006-08-043166
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