Correction of murine Rag1 deficiency by self-inactivating lentiviral vector-mediated gene transfer

Leukemia. 2011 Sep;25(9):1471-83. doi: 10.1038/leu.2011.106. Epub 2011 May 27.

Abstract

Severe combined immunodeficiency (SCID) patients with an inactivating mutation in recombination activation gene 1 (RAG1) lack B and T cells due to the inability to rearrange immunoglobulin (Ig) and T-cell receptor (TCR) genes. Gene therapy is a valid treatment option for RAG-SCID patients, especially for patients lacking a suitable bone marrow donor, but developing such therapy has proven challenging. As a preclinical model for RAG-SCID, we used Rag1-/- mice and lentiviral self-inactivating (SIN) vectors harboring different internal elements to deliver native or codon-optimized human RAG1 sequences. Treatment resulted in the appearance of B and T cells in peripheral blood and developing B and T cells were detected in central lymphoid organs. Serum Ig levels and Ig and TCR Vβ gene segment usage was comparable to wild-type (WT) controls, indicating that RAG-mediated rearrangement took place. Remarkably, relatively low frequencies of B cells produced WT levels of serum immunoglobulins. Upon stimulation of the TCR, corrected spleen cells proliferated and produced cytokines. In vivo challenge resulted in production of antigen-specific antibodies. No leukemia development as consequence of insertional mutagenesis was observed. The functional reconstitution of the B- as well as the T-cell compartment provides proof-of-principle for therapeutic RAG1 gene transfer in Rag1-/- mice using lentiviral SIN vectors.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • B-Lymphocytes / physiology
  • Blotting, Western
  • Bone Marrow / metabolism
  • Bone Marrow / pathology
  • Bone Marrow Transplantation
  • Cell Proliferation
  • Cytokines / metabolism
  • Enzyme-Linked Immunosorbent Assay
  • Flow Cytometry
  • Gene Rearrangement
  • Gene Transfer Techniques
  • Genetic Therapy*
  • Genetic Vectors / administration & dosage*
  • Homeodomain Proteins / genetics*
  • Homeodomain Proteins / physiology*
  • Humans
  • Immunoglobulin G / metabolism
  • Lentivirus / genetics*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • RNA, Messenger / genetics
  • Receptors, Antigen, T-Cell / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / therapy*
  • Spleen / cytology
  • Spleen / immunology
  • Spleen / metabolism
  • T-Lymphocytes / physiology
  • Transgenes / physiology

Substances

  • Cytokines
  • Homeodomain Proteins
  • Immunoglobulin G
  • RNA, Messenger
  • Receptors, Antigen, T-Cell
  • RAG-1 protein