Article
Analysis of the recovery of CD247 expression in a PID patient: insights into the spontaneous repair of defective genes.
Blood - 7 Sept 2017
Blázquez-Moreno Alfonso, Pérez-Portilla Adriana, Agúndez-Llaca Miriam, Dukovska Daniela, Valés-Gómez Mar, Aydogmus Cigdem, Ikinciogullari Aydan, Regueiro José R, Reyburn Hugh T
Abstract excerpt
Mutations in T-cell antigen receptor (TCR) subunit genes cause rare immunodeficiency diseases characterized by impaired expression of the TCR at the cell surface and selective T lymphopenia. Here, detailed analyses of spontaneously arising somatic mutations that recover CD247, and thus TCR expression, in a newly identified CD247-deficient patient are described. The recovery of CD247 expression in some patient T...
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