CRISPR-Cas9-based gene editing as a proof-of-concept approach in an inborn error of immunity caused by a DCLRE1C variant - PubMed
3 hours ago
- #DCLRE1C
- #Gene Therapy
- #CRISPR-Cas9
- CRISPR-Cas9 gene editing was used to correct a hypomorphic DCLRE1C variant (c.194 C > T; p.T65I) in CD4+ helper T cells.
- The study demonstrated successful restoration of the target region to its wild-type sequence via Sanger sequencing.
- Functional analyses showed increased CD25 activation and Artemis protein expression post-editing, though DCLRE1C mRNA levels remained unchanged.
- The findings suggest CRISPR-Cas9 can induce cellular-level functional changes, supporting biological feasibility over therapeutic efficacy.
- This research lays groundwork for future studies on hematopoietic stem cells (HSCs) and potential treatments for inborn errors of immunity (IEIs).