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Gene therapy for primary immunodeficiency

Author
Francisco A Bonilla, MD, PhD
Section Editor
E Richard Stiehm, MD
Deputy Editor
Elizabeth TePas, MD, MS

INTRODUCTION

Gene therapy is one of two technologies (the other is hematopoietic cell transplantation, HCT) with the potential to cure genetic disease [1-4]. The goal of gene therapy is to correct the deficiency by introducing a functional copy of the patient's defective gene into the appropriate cells.

A potential alternative or adjunctive therapy to gene therapy or HCT is mutation-targeted drug treatment [5]. These pharmacogenetic agents correct genetic mutations at the nuclear level.

Hematopoietic cell transplantation and medical therapy of immunodeficiencies are discussed separately. (See "Hematopoietic cell transplantation for primary immunodeficiency" and "Medical management of immunodeficiency".)

GENE THERAPY

Gene therapy has the potential to cure genetically based diseases. The gene copy must be introduced into a sufficient number of cells and also be adequately expressed for its product to correct the deficiency.

Genetically engineered viruses are used to carry the DNA of interest into host cells [6,7]. Viral genes required for propagation are replaced with a working copy of the human gene of interest. Viral DNA signals cause the DNA to be inserted into the host genome when retroviral or lentiviral vectors are used. Success is more likely with expression of genes that confer a development or survival advantage over untransduced cells.

           

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Literature review current through: Nov 2016. | This topic last updated: Tue Oct 28 00:00:00 GMT+00:00 2014.
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