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Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency

Authors: 
Gavino C, Landekic M, Zeng J, Wu N, Jung S, Zhong MC, Cohen-Blanchet A, Langelier M, Neyret O, Lejtenyi D, Rochefort C, Cotton-Montpetit J, McCusker C, Mazer B, Veillette A, Vinh DC
Citation: 
J Allergy Clin Immunol. 2017 May;139(5):1688-1692.e10. doi: 10.1016/j.jaci.2017.02.002. Epub 2017 Feb 17. PMID: 28216435; PMCID: PMC7126384
Abstract: 
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.
Epub: 
Yes
Link to Publication: 
https://pmc.ncbi.nlm.nih.gov/articles/PMC7126384/