Correction of B-cell development in Btk-deficient mice using lentiviral vectors with codon-optimized human BTK
Correction of B-cell development in Btk-deficient mice using lentiviral vectors with codon-optimized human BTK
X-linked agammaglobulinemia (XLA) is the most common primary immunodeficiency (PID) in man and caused by mutations in the Bruton's tyrosine kinase (BTK) gene. XLA is characterized by a B-cell differentiation arrest in bone marrow, absence of mature B cells and immunoglobulins (Igs), and recurrent bacterial infections. We used self-inactivating lentiviral vectors expressing codon-optimized human BTK under the control of three different ubiquitous or B cell-specific promoters. Btk-/- mice engrafted with transduced cells showed correction of both precursor B-cell and peripheral B-cell development. Lentiviral vectors containing the wildtype BTK sequence did not correct the phenotype. All treated mice with codon-optimized BTK exhibited the recovery of B1 cells in the peritoneal cavity, and of serum IgM and IgG3 levels. Calcium mobilization responses upon B-cell receptor stimulation as well as in vivo responses to T cell-independent antigens were restored. Viral promoters overexpressing BTK >100-fold above normal resulted in erythro-myeloid proliferations independent of insertional mutagenesis. However, transplantation into secondary Btk-/- recipients using cellular promoters resulted in functional restoration of peripheral B cells and IgM levels, without any adverse effects. In conclusion, transduction of human BTK corrects B-cell development and antigen-specific antibody responses in Btk-/- mice, thus indicating the feasibility of lentiviral gene therapy for XLA, provided that BTK expression does not vastly exceed normal levels.
- Hannover Medical School Germany
- Erasmus University Medical Center Netherlands
- Erasmus University Rotterdam Netherlands
- Leiden University Medical Center Netherlands
Genetic Vectors, Polymerase Chain Reaction, EMC MM-02-72-01, XLA BTK stem cells B cells lentivirus gene therapy x-linked agammaglobulinemia brutons tyrosine kinase severe combined immunodeficiency gene-therapy insertional mutagenesis retroviral vector hematopoietic-cells bone-marrow mouse model tec family, Mice, Transduction, Genetic, Agammaglobulinaemia Tyrosine Kinase, Animals, Humans, Codon, Bone Marrow Transplantation, DNA Primers, Mice, Knockout, B-Lymphocytes, Base Sequence, Lentivirus, Protein-Tyrosine Kinases, EMC MM-04-42-02, Flow Cytometry, Mice, Inbred C57BL, Mutagenesis, Insertional, Calcium
Genetic Vectors, Polymerase Chain Reaction, EMC MM-02-72-01, XLA BTK stem cells B cells lentivirus gene therapy x-linked agammaglobulinemia brutons tyrosine kinase severe combined immunodeficiency gene-therapy insertional mutagenesis retroviral vector hematopoietic-cells bone-marrow mouse model tec family, Mice, Transduction, Genetic, Agammaglobulinaemia Tyrosine Kinase, Animals, Humans, Codon, Bone Marrow Transplantation, DNA Primers, Mice, Knockout, B-Lymphocytes, Base Sequence, Lentivirus, Protein-Tyrosine Kinases, EMC MM-04-42-02, Flow Cytometry, Mice, Inbred C57BL, Mutagenesis, Insertional, Calcium
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