Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor beta1-deficient patients

Mol Ther. 2004 Jun;9(6):895-901. doi: 10.1016/j.ymthe.2004.02.024.

Abstract

Genetic deficiency of human IL-12 receptor beta1 chain (IL-12Rbeta1) results in increased vulnerability to weakly pathogenic strains of Mycobacteria and Salmonella. This phenotype results from the combined lack of IL-12 and IL-23 signaling as both cytokine receptors share IL-12Rbeta1. Such infections can be treated by administration of antibiotics and IFN-gamma; however, patients can succumb to infections despite these treatments. Reversion of patients' susceptibility by corrective gene transfer could prevent the infectious episodes, thus providing a beneficial alternative. We therefore evaluated the feasibility of retroviral-mediated gene correction of T cells obtained from patients carrying "null" mutations of IL-12Rbeta1. Transduction of the IL-12Rbeta1 cDNA restored the expression of IL-12Rbeta1 and resulted in the reconstitution of a functional IL-12 signaling pathway, as demonstrated by STAT4 phosphorylation and IFN-gamma production. IFN-gamma production in response to IL-23 was also corrected after gene transfer. These results indicate that the biological defects of T cells from patients carrying IL-12Rbeta1 deficiency can be corrected by gene transfer and form the basis for further development of gene therapy for this disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bacterial Infections / genetics
  • Bacterial Infections / immunology
  • Bacterial Infections / therapy*
  • Cell Line
  • DNA-Binding Proteins / metabolism
  • Gene Transfer Techniques
  • Genetic Therapy / methods*
  • Genetic Vectors / genetics
  • Humans
  • Interferon-gamma / immunology
  • Interferon-gamma / metabolism
  • Interleukin-12 / immunology
  • Interleukin-12 / metabolism
  • Interleukin-12 / pharmacology
  • Interleukin-23
  • Interleukin-23 Subunit p19
  • Interleukins / immunology
  • Interleukins / metabolism
  • Interleukins / pharmacology*
  • Phosphorylation
  • Receptors, Interleukin / analysis
  • Receptors, Interleukin / genetics*
  • Receptors, Interleukin / immunology
  • Receptors, Interleukin-12
  • Retroviridae / genetics*
  • STAT4 Transcription Factor
  • Signal Transduction
  • T-Lymphocytes / immunology*
  • Trans-Activators / metabolism

Substances

  • DNA-Binding Proteins
  • IL12RB1 protein, human
  • IL23A protein, human
  • Interleukin-23
  • Interleukin-23 Subunit p19
  • Interleukins
  • Receptors, Interleukin
  • Receptors, Interleukin-12
  • STAT4 Transcription Factor
  • STAT4 protein, human
  • Trans-Activators
  • Interleukin-12
  • Interferon-gamma