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

Details

Serval ID
serval:BIB_7EEC287157B4
Type
Article: article from journal or magazin.
Collection
Publications
Title
Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor beta1-deficient patients
Journal
Mol Ther
Author(s)
Bosticardo M., Witte I., Fieschi C., Novelli F., Casanova J. L., Candotti F.
ISSN
1525-0016 (Print)
ISSN-L
1525-0016
Publication state
Published
Issued date
06/2004
Volume
9
Number
6
Pages
895-901
Language
english
Notes
Bosticardo, Marita
Witte, Iren
Fieschi, Claire
Novelli, Francesco
Casanova, Jean-Laurent
Candotti, Fabio
eng
Research Support, Non-U.S. Gov't
Mol Ther. 2004 Jun;9(6):895-901.
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.
Keywords
Bacterial Infections/genetics/immunology/*therapy, Cell Line, DNA-Binding Proteins/metabolism, Gene Transfer Techniques, Genetic Therapy/*methods, Genetic Vectors/genetics, Humans, Interferon-gamma/immunology/metabolism, Interleukin-12/immunology/metabolism/pharmacology, Interleukin-23, Interleukin-23 Subunit p19, Interleukins/immunology/metabolism/*pharmacology, Phosphorylation, Receptors, Interleukin/analysis/*genetics/immunology, Receptors, Interleukin-12, Retroviridae/*genetics, STAT4 Transcription Factor, Signal Transduction, T-Lymphocytes/*immunology, Trans-Activators/metabolism
Pubmed
Open Access
Yes
Create date
01/11/2017 11:29
Last modification date
20/08/2019 15:39
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