ArticleCell reports2018
Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome.
Article in Cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 1 of them a synthesis that pooled it.
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Who cites it
92 citing papers in PubMed, 1 synthesis or guideline pooled it, 138 citations in OpenAlex.
- Persistence of CRISPR/Cas9 gene edited hematopoietic stem cells following transplantation: A systematic review and meta-analysis of preclinical studies.Stem cells translational medicine · 2021Pooled it
- Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency.Journal of human immunity · 2026Article
- Comparative analysis of NSG and NBSGW mice for preclinical evaluation of gene-modified human hematopoietic stem and progenitor cells.Stem cell research & therapy · 2026Article
- Gene-sized editing for the therapy of genetic diseases.Functional & integrative genomics · 2026Review
- Harnessing DNA barcoding to enhance and sustain polyclonality in gene-edited hematopoietic stem cells.Molecular therapy. Methods & clinical development · 2025Article
- Gene therapy for inborn errors of immunity: past progress, current status and future directions.Rare disease and orphan drugs journal · 2025Article
- A novel CD40LG mutation causing X‑linked hyper-IgM syndrome.Global medical genetics · 2025Article
- Targeted gene editing and near-universal cDNA insertion of CYBA and CYBB as a treatment for chronic granulomatous disease.Nature communications · 2025Article
- Senescence and inflammation are unintended adverse consequences of CRISPR-Cas9/AAV6-mediated gene editing in hematopoietic stem cells.Cell reports. Medicine · 2025Article
- Ex vivo modification of hematopoietic stem and progenitor cells for gene therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Applications of Gene Editing and Nanotechnology in Stem Cell-Based Therapies for Human Diseases.Stem cell reviews and reports · 2025Review
- Efficient site-specific integration of large genes in mammalian cells via continuously evolved recombinases and prime editing.Nature biomedical engineering · 2025Article
- DNA contamination within recombinant adeno-associated virus preparations correlates with decreased CD34Molecular therapy. Methods & clinical development · 2024Article
- Article
- 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
- Review
- 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
- Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4The EMBO journal · 2023Article
- Scalable GMP-compliant gene correction of CD4+ T cells with IDLV template functionally validatedMolecular therapy. Methods & clinical development · 2023Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 1 institution in 1 country.
Funding
Abstract
X-linked hyper-immunoglobulin M (hyper-IgM) syndrome (XHIM) is a primary immunodeficiency due to mutations in CD40 ligand that affect immunoglobulin class-switch recombination and somatic hypermutation. The disease is amenable to gene therapy using retroviral vectors, but dysregulated gene expression results in abnormal lymphoproliferation in mouse models, highlighting the need for alternative strategies. Here, we demonstrate the ability of both the transcription activator-like effector nuclease (TALEN) and clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR/Cas9) platforms to efficiently drive integration of a normal copy of the CD40L cDNA delivered by Adeno-Associated Virus. Site-specific insertion of the donor sequence downstream of the endogenous CD40L promoter maintained physiologic expression of CD40L while overriding all reported downstream mutations. High levels of gene modification were achieved in primary human hematopoietic stem cells (HSCs), as well as in cell lines and XHIM-patient-derived T cells. Notably, gene-corrected HSCs engrafted in immunodeficient mice at clinically relevant frequencies. These studies provide the foundation for a permanent curative therapy in XHIM.
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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.