ArticleBlood2021
CRISPR-targeted MAGT1 insertion restores XMEN patient hematopoietic stem cells and lymphocytes.
Article in Blood, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Gene editing of hematopoietic stem cells: applications and advances.International journal of hematology · 2026Review
- Engraftment Outcome of CRISPR/Cas9-Edited Hematopoietic Stem Cells for Genetic Diseases: A Systematic Review and Meta-Analysis of Preclinical Evidence.Journal of hematology · 2026Article
- Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories.Journal of clinical medicine · 2026Article
- Gene therapy for inborn errors of immunity: past progress, current status and future directions.Rare disease and orphan drugs journal · 2025Article
- Ligand-modified rAAV6 vectors with nanoblades allow high-level gene knockin in HSPCs without compromising cell survival.Molecular therapy. Nucleic acids · 2025Article
- Hypomagnesemia in lymphoma patients receiving CAR T therapy correlates with immune dysfunction and decreased survival.Experimental hematology & oncology · 2025Article
- Effects of two different variants in theFrontiers in immunology · 2025Article
- Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiencyBiomedica : revista del Instituto Nacional de Salud · 2024Article
- High-fidelity PAMless base editing of hematopoietic stem cells to treat chronic granulomatous disease.Science translational medicine · 2024Article
- Rediscovering the human thymus through cutting-edge technologies.The Journal of experimental medicine · 2024Review
- DNA-PK inhibition enhances gene editing efficiency in HSPCs for CRISPR-based treatment of X-linked hyper IgM syndrome.Molecular therapy. Methods & clinical development · 2024Article
- Mending RAG2: gene editing for treatment of RAG2 deficiency.Blood advances · 2024Article
- Impact of CRISPR/HDR editing versus lentiviral transduction on long-term engraftment and clonal dynamics of HSPCs in rhesus macaques.Cell stem cell · 2024Article
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Efficient high-precision homology-directed repair-dependent genome editing by HDRobust.Nature methods · 2023Article
- Gene therapy for inborn errors of immunity: past, present and future.Nature reviews. Immunology · 2023Review
- Homology-Directed-Repair-Based Genome Editing in HSPCs for the Treatment of Inborn Errors of Immunity and Blood Disorders.Pharmaceutics · 2023Review
- Development of a versatile nuclease prime editor with upgraded precision.Nature communications · 2023Article
- Advances in CRISPR/Cas gene therapy for inborn errors of immunity.Frontiers in immunology · 2023Review
- Precise somatic genome editing for treatment of inborn errors of immunity.Frontiers in immunology · 2022Review
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Authors and funding
23 authors at 4 institutions in 1 country.
Funding
Abstract
XMEN disease, defined as "X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus infection and N-linked glycosylation defect," is a recently described primary immunodeficiency marked by defective T cells and natural killer (NK) cells. Unfortunately, a potentially curative hematopoietic stem cell transplantation is associated with high mortality rates. We sought to develop an ex vivo targeted gene therapy approach for patients with XMEN using a CRISPR/Cas9 adeno-associated vector (AAV) to insert a therapeutic MAGT1 gene at the constitutive locus under the regulation of the endogenous promoter. Clinical translation of CRISPR/Cas9 AAV-targeted gene editing (GE) is hampered by low engraftable gene-edited hematopoietic stem and progenitor cells (HSPCs). Here, we optimized GE conditions by transient enhancement of homology-directed repair while suppressing AAV-associated DNA damage response to achieve highly efficient (>60%) genetic correction in engrafting XMEN HSPCs in transplanted mice. Restored MAGT1 glycosylation function in human NK and CD8+ T cells restored NK group 2 member D (NKG2D) expression and function in XMEN lymphocytes for potential treatment of infections, and it corrected HSPCs for long-term gene therapy, thus offering 2 efficient therapeutic options for XMEN poised for clinical translation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.