Hematopoietic stem cell gene therapy for the treatment of X-linked agammaglobulinemia.

ABSTRACT: X-linked agammaglobulinemia (XLA) is a rare inborn error of immunity caused by loss-of-function mutations in the gene encoding Bruton's tyrosine kinase (BTK). XLA patients lack mature B cells and have negligible antibody levels, leaving them susceptible to recurrent bacterial and chronic viral infections. Autologous hematopoietic stem cell gene therapy with gene-corrected HSC may serve as a promising treatment of XLA; this therapy would provide a one-time cure and would replace lifelong immunoglobulin replacement therapy. Due to the requirement of strict physiological regulation of BTK gene expression, a site-specific editing strategy was designed to insert a BTK cDNA transgene directly into its endogenous locus. To study the effectiveness of this therapy, murine lineage-nega

SUBMITTER: Luthers CR 

PROVIDER: S-EPMC12410350 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature