SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

Copyright © 2015 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 161(2015), 2 vom: 17. Dez., Seite 103-9
1. Verfasser: Hauck, Fabian (VerfasserIn)
Weitere Verfasser: Blumenthal, Britta, Fuchs, Sebastian, Lenoir, Christelle, Martin, Emmanuel, Speckmann, Carsten, Vraetz, Thomas, Mannhardt-Laakmann, Wilma, Lambert, Nathalie, Gil, Marine, Borte, Stephan, Audrain, Marie, Schwarz, Klaus, Lim, Annick, Schamel, Wolfgang W, Fischer, Alain, Ehl, Stephan, Rensing-Ehl, Anne, Picard, Capucine, Latour, Sylvain
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2015
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't CID Live vaccine adverse event SYK TCR signaling TREC newborn screening ZAP70 Intracellular Signaling Peptides and Proteins Receptors, Antigen, T-Cell mehr... Protein-Tyrosine Kinases EC 2.7.10.1 SYK protein, human EC 2.7.10.2 Syk Kinase ZAP-70 Protein-Tyrosine Kinase ZAP70 protein, human
LEADER 01000caa a22002652 4500
001 NLM251001970
003 DE-627
005 20250218203119.0
007 cr uuu---uuuuu
008 231224s2015 xx |||||o 00| ||eng c
024 7 |a 10.1016/j.clim.2015.07.002  |2 doi 
028 5 2 |a pubmed25n0836.xml 
035 |a (DE-627)NLM251001970 
035 |a (NLM)26187144 
035 |a (PII)S1521-6616(15)30006-1 
040 |a DE-627  |b ger  |c DE-627  |e rakwb 
041 |a eng 
100 1 |a Hauck, Fabian  |e verfasserin  |4 aut 
245 1 0 |a SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling 
264 1 |c 2015 
336 |a Text  |b txt  |2 rdacontent 
337 |a ƒaComputermedien  |b c  |2 rdamedia 
338 |a ƒa Online-Ressource  |b cr  |2 rdacarrier 
500 |a Date Completed 29.02.2016 
500 |a Date Revised 26.11.2016 
500 |a published: Print-Electronic 
500 |a Citation Status MEDLINE 
520 |a Copyright © 2015 Elsevier Inc. All rights reserved. 
520 |a Autosomal recessive human ZAP70 deficiency is a rare cause of combined immunodeficiency (CID) characterized by defective CD4 T cells and profound CD8 T cell lymphopenia. Herein, we report two novel patients that extend the molecular genetics, the clinical and functional phenotypes associated with the ZAP70 deficiency. The patients presented as infant-onset CID with severe infections caused by varicella zoster virus and live vaccines. Retrospective TCR excision circle newborn screening was normal in both patients. One patient carried a novel non-sense mutation (p.A495fsX75); the other a previously described misense mutation (p.A507V). In contrast to CD4 T cells, the majority of the few CD8 T cells showed expression of the ZAP70-related tyrosine kinase SYK that correlated with residual TCR signaling including calcium flux and degranulation. Our findings highlight the differential requirements of ZAP70 and SYK during thymic development, peripheral homeostasis as well as effector functions of CD4 and CD8 T cells 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a CID 
650 4 |a Live vaccine adverse event 
650 4 |a SYK 
650 4 |a TCR signaling 
650 4 |a TREC newborn screening 
650 4 |a ZAP70 
650 7 |a Intracellular Signaling Peptides and Proteins  |2 NLM 
650 7 |a Receptors, Antigen, T-Cell  |2 NLM 
650 7 |a Protein-Tyrosine Kinases  |2 NLM 
650 7 |a EC 2.7.10.1  |2 NLM 
650 7 |a SYK protein, human  |2 NLM 
650 7 |a EC 2.7.10.2  |2 NLM 
650 7 |a Syk Kinase  |2 NLM 
650 7 |a EC 2.7.10.2  |2 NLM 
650 7 |a ZAP-70 Protein-Tyrosine Kinase  |2 NLM 
650 7 |a EC 2.7.10.2  |2 NLM 
650 7 |a ZAP70 protein, human  |2 NLM 
650 7 |a EC 2.7.10.2  |2 NLM 
700 1 |a Blumenthal, Britta  |e verfasserin  |4 aut 
700 1 |a Fuchs, Sebastian  |e verfasserin  |4 aut 
700 1 |a Lenoir, Christelle  |e verfasserin  |4 aut 
700 1 |a Martin, Emmanuel  |e verfasserin  |4 aut 
700 1 |a Speckmann, Carsten  |e verfasserin  |4 aut 
700 1 |a Vraetz, Thomas  |e verfasserin  |4 aut 
700 1 |a Mannhardt-Laakmann, Wilma  |e verfasserin  |4 aut 
700 1 |a Lambert, Nathalie  |e verfasserin  |4 aut 
700 1 |a Gil, Marine  |e verfasserin  |4 aut 
700 1 |a Borte, Stephan  |e verfasserin  |4 aut 
700 1 |a Audrain, Marie  |e verfasserin  |4 aut 
700 1 |a Schwarz, Klaus  |e verfasserin  |4 aut 
700 1 |a Lim, Annick  |e verfasserin  |4 aut 
700 1 |a Schamel, Wolfgang W  |e verfasserin  |4 aut 
700 1 |a Fischer, Alain  |e verfasserin  |4 aut 
700 1 |a Ehl, Stephan  |e verfasserin  |4 aut 
700 1 |a Rensing-Ehl, Anne  |e verfasserin  |4 aut 
700 1 |a Picard, Capucine  |e verfasserin  |4 aut 
700 1 |a Latour, Sylvain  |e verfasserin  |4 aut 
773 0 8 |i Enthalten in  |t Clinical immunology (Orlando, Fla.)  |d 1999  |g 161(2015), 2 vom: 17. Dez., Seite 103-9  |w (DE-627)NLM098196855  |x 1521-7035  |7 nnns 
773 1 8 |g volume:161  |g year:2015  |g number:2  |g day:17  |g month:12  |g pages:103-9 
856 4 0 |u http://dx.doi.org/10.1016/j.clim.2015.07.002  |3 Volltext 
912 |a GBV_USEFLAG_A 
912 |a SYSFLAG_A 
912 |a GBV_NLM 
912 |a GBV_ILN_11 
912 |a GBV_ILN_24 
912 |a GBV_ILN_350 
951 |a AR 
952 |d 161  |j 2015  |e 2  |b 17  |c 12  |h 103-9