Cut and Paste

Using CRISPR/Cas 9 to model RAG1 Deficiency

Ott de Bruin, Lisa

Prof.dr. N.M. (Nico) Wulffraat
Dr. M.L. (Marianne) Boes
Research group:
Boes , Wulffraat
November 14, 2018
12:45 h


RAG1 deficiency is a primary immunodeficiency (PID) caused by a mutation in RAG1, therefore affecting VDJ recombination. The main aim of this thesis was to generate novel in vitro and in vivo models of RAG1 deficiency to study the mechanisms underlying the different RAG phenotypes, with a focus on combined immunodeficiency with granuloma and/or autoimmunity (CID-G/AI). These models will also be useful to test novel treatment options for patients with mutations in RAG1. A promising novel treatment is gene correction, so improving the genome-editing strategy used to generate models of RAG1 deficiency should also contribute to the development of a gene therapy that corrects patient stem cells.

Full text