Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immun...
Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
In humans, the complete lack of tyrosine kinase ZAP70 function results in combined immunodeficiency (CID), with abnormal thymic development and defective T cell receptor (TCR) signaling of peripheral T cells, characterized by the selective absence of CD8
+
T cells. So far, 15 unique
ZAP70
mutations have been identified in approximately...
Alternative Titles
Full title
Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1881752887
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1881752887
Other Identifiers
ISSN
0093-7711
E-ISSN
1432-1211
DOI
10.1007/s00251-017-0971-0
