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Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiencyGavino, Christina, MSc; Landekic, Marija, MSc; Zeng, Jibin, PhD; Wu, Ning, PhD; Jung, Sungmi, MD; Zhong, Ming-Chao, PhD; Cohen-Blanchet, Alexis, MSc; Langelier, Mélanie, BScN; Neyret, Odile, PhD; Lejtenyi, Duncan, MSc; Rochefort, Claudia, MD; Cotton-Montpetit, Judith, PhD; McCusker, Christine, MD; Mazer, Bruce, MD; Veillette, André, MD; Vinh, Donald C., MD
Journal of allergy and clinical immunology, 05/2017, Volume: 139, Issue: 5Journal Article
An adult with hypomorphic ZAP-70 deficiency due to de novo donor splice site mutation manifested autoimmunity, infections especially with DNA-based viruses and lymphoproliferation. Morpholino interference of mutant splice site increased expression of wild-type protein, significantly improving T cell responses.
