Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity

Blood. 2006 Jan 1;107(1):63-72. doi: 10.1182/blood-2005-05-2032. Epub 2005 Sep 20.

Abstract

Severe combined immunodeficiency (SCID) caused by mutations in RAG1 or RAG2 genes is characterized by a complete block in T- and B-cell development. The only curative treatment is allogeneic hematopoietic stem cell transplantation, which gives a high survival rate (90%) when an HLA-genoidentical donor exists but unsatisfactory results when only partially compatible donors are available. We have thus been interested in the development of a potential alternative treatment by using retroviral gene transfer of a normal copy of RAG1 cDNA. We show here that this approach applied to RAG-1-deficient mice restores normal B- and T-cell function even in the presence of a reduced number of mature B cells. The reconstitution is stable over time, attesting to a selective advantage of transduced progenitors. Notably, a high transgene copy number was detected in all lymphoid organs, and this was associated with a risk of lymphoproliferation as observed in one mouse. Altogether, these results demonstrate that correction of RAG-1 deficiency can be achieved by gene therapy in immunodeficient mice but that human application would require the use of self-inactivated vector to decrease the risk of lymphoproliferative diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • B-Lymphocytes / cytology
  • B-Lymphocytes / immunology
  • Gene Dosage
  • Genetic Therapy / adverse effects
  • Genetic Therapy / methods*
  • Homeodomain Proteins / administration & dosage*
  • Homeodomain Proteins / adverse effects
  • Homeodomain Proteins / genetics
  • Immune System / drug effects*
  • Immune System / physiology
  • Lymphoproliferative Disorders / etiology
  • Mice
  • Mice, Knockout
  • Regeneration / drug effects*
  • Retroviridae / genetics
  • Severe Combined Immunodeficiency / complications
  • Severe Combined Immunodeficiency / therapy*
  • T-Lymphocytes / cytology
  • T-Lymphocytes / immunology

Substances

  • Homeodomain Proteins
  • RAG-1 protein