CRISPR-mediated functional mapping of IL2RG variants in primary human T cells predicts X-linked severe combined immunodeficiency
Yvonne Rong, Mikhail Vysotskiy, Peixin Amy Chen, Ekansh K. Agrawal, Edward D. Marsh, Charlotte H. Wang, Daniel Carr, Rama Dajani, Brenna J. Gittins, Furong Yu, Daniel Bryan Goodman, Eric Shifrut, Jennifer M. Puck, Alexander Marson, David N. Nguyen
The paper uses CRISPR to assess the functional impact of IL2RG variants in human T cells, confirming known annotations and identifying novel loss-of-function mutations.
medRxiv · Apr 29, 2026 · PreprintGenetic & Genomic Medicine