T-cell gene therapy for perforin deficiency corrects  cytotoxicity defects and prevents hemophagocytic lymphohistiocytosis manifestations

Mutations in the perforin 1 (PRF1) gene account for up to 58% of familial hemophagocytic lymphohistiocytosis syndromes. The resulting defects in effector cell cytotoxicity lead to hypercytokinemia and hyperactivation with inflammation in various organs.

Source: Journal of Allergy and Clinical Immunology - January 17, 2018 Category: Allergy & Immunology Authors: Sujal Ghosh, Marlene Carmo, Miguel Calero-Garcia, Ida Ricciardelli, Juan Carlos Bustamante Ogando, Michael P. Blundell, Axel Schambach, Philip G. Ashton-Rickardt, Claire Booth, Stephan Ehl, Kai Lehmberg, Adrian J. Thrasher, H. Bobby Gaspar Tags: Mechanisms of allergy/immunology Source Type: research