Major role of local immune responses in antibody formation to factor IX in AAV gene transfer

Gene Ther. 2005 Oct;12(19):1453-64. doi: 10.1038/sj.gt.3302539.

Abstract

The risk of an immune response to the coagulation factor IX (F.IX) transgene product is a concern in gene therapy for the X-linked bleeding disorder hemophilia B. In order to investigate the mechanism of F.IX-specific lymphocyte activation in the context of adeno-associated viral (AAV) gene transfer to skeletal muscle, we injected AAV-2 vector expressing human F.IX (hF.IX) into outbred immune-competent mice. Systemic hF.IX levels were transiently detected in the circulation, but diminished concomitant with activation of CD4+ T and B cells. ELISPOT assays documented robust responses to hF.IX in the draining lymph nodes of injected muscle by day 14. Formation of inhibitory antibodies to hF.IX was observed over a wide range of vector doses, with increased doses causing stronger immune responses. A prolonged inflammatory reaction in muscle started at 1.5-2 months, but ultimately failed to eliminate transgene expression. By 1.5 months, hF.IX antigen re-emerged in circulation in approximately 70% of animals injected with high vector dose. Hepatic gene transfer elicited only infrequent and weaker immune responses, with higher vector doses causing a reduction in T-cell responses to hF.IX. In summary, the data document substantial influence of target tissue, local antigen presentation, and antigen levels on lymphocyte responses to F.IX.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenoviruses, Human / genetics
  • Animals
  • Antibodies, Blocking / immunology*
  • Antibody Formation
  • B-Lymphocytes / immunology
  • Dependovirus / genetics*
  • Factor IX / immunology*
  • Genetic Therapy / adverse effects*
  • Genetic Therapy / methods
  • Genetic Vectors / administration & dosage
  • Genetic Vectors / immunology
  • Hemophilia B / immunology
  • Hemophilia B / therapy*
  • Humans
  • Injections, Intramuscular
  • Interferon-gamma / immunology
  • Interleukin-4 / immunology
  • Lymphocyte Activation
  • Male
  • Mice
  • Mice, Inbred Strains
  • Muscle, Skeletal / immunology*
  • T-Lymphocytes, Helper-Inducer / immunology
  • Transduction, Genetic / methods
  • Transgenes

Substances

  • Antibodies, Blocking
  • Interleukin-4
  • Interferon-gamma
  • Factor IX