Article
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.
Clinical immunology (Orlando, Fla.) - 1 Dec 2015
Hauck Fabian, 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
Abstract excerpt
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...
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