Advances of gene therapy for primary immunodeficiencies

In the recent past, the gene therapy field has witnessed a remarkable series of successes, many of which have involved primary immunodeficiency diseases, such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic granulomatous disease, and Wiskott-Aldrich syndrome. While such progress has widened the choice of therapeutic options in some specific cases of primary immunodeficiency, much remains to be done to extend the geographical availability of such an advanced approach and to increase the number of diseases that can be targeted. At the same time, emerging technologies are stimulating intensive investigations that may lead to the application of precise genetic editing as the next form of gene therapy for these and other human genetic diseases.

• Publication year

  2016

• Venue

  F1000Research

• Publication date

  2016-03-09

• Fields of study

  Medicine

• Identifiers
  DOI 10.12688/f1000research.7512.1PMID 27508076PMCID 4963077
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Successful Combination of Sequential Gene Therapy and Rescue Allo-HSCT in Two Children with X-CGD - Importance of Timing.

  2015cited by this paper
• Gene Therapy Using a Self-Inactivating Lentiviral Vector Improves Clinical and Laboratory Manifestations of Wiskott-Aldrich Syndrome

  2015cited by this paper
• Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

  2015cited by this paper
• Dual-regulated lentiviral vector for gene therapy of X-linked chronic granulomatosis.

  2015cited by this paper
• Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.

  2015cited by this paper
• Lentiviral Hematopoietic Stem Cell Gene Therapy for Older Patients with X-Linked Severe Combined Immunodeficiency

  2015cited by this paper
• Perforin Gene Transfer Into Hematopoietic Stem Cells Improves Immune Dysregulation in Murine Models of Perforin Deficiency

  2014cited by this paper
• Targeted Genome Editing in Human Repopulating Hematopoietic Stem Cells

  2014cited by this paper
• Gene Therapy for Wiskott-Aldrich Syndrome—Long-Term Efficacy and Genotoxicity

  2014cited by this paper
• Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.

  2014cited by this paper
• A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.

  2014cited by this paper
• Immunological and metabolic correction after lentiviral vector mediated haematopoietic stem cell gene therapy for ADA deficiency

  2014cited by this paper
• Preclinical demonstration of lentiviral vector-mediated correction of immunological and metabolic abnormalities in models of adenosine deaminase deficiency.

  2014cited by this paper
• Successful RAG1-SCID gene therapy depends on the level of RAG1 expression.

  2014cited by this paper
• Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study.

  2014cited by this paper
• Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

  2013cited by this paper
• Immunodeficiency Due to Defects of Purine Metabolism

  2013cited by this paper
• SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease.

  2013cited by this paper
• Correction of murine Rag2 severe combined immunodeficiency by lentiviral gene therapy using a codon-optimized RAG2 therapeutic transgene.

  2012cited by this paper
• Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

  2012cited by this paper
• Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

  2012cited by this paper
• Gene therapy for primary immunodeficiencies: Part 2.

  2012cited by this paper
• Correction of murine Rag1 deficiency by self-inactivating lentiviral vector-mediated gene transfer

  2011cited by this paper
• A tissue-specific, activation-inducible, lentiviral vector regulated by human CD40L proximal promoter sequences

  2011cited by this paper
• Stem-Cell Gene Therapy for the Wiskott-Aldrich Syndrome

  2011cited by this paper
• Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

  2011cited by this paper
• Chronic granulomatous disease: overview and hematopoietic stem cell transplantation.

  2011cited by this paper
• Gene therapy of canine leukocyte adhesion deficiency using lentiviral vectors with human CD11b and CD18 promoters driving canine CD18 expression.

  2011cited by this paper
• Hematopoietic Stem Cell Gene Therapy for Adenosine Deaminase–Deficient Severe Combined Immunodeficiency Leads to Long-Term Immunological Recovery and Metabolic Correction

  2011cited by this paper
• Gene therapy of chronic granulomatous disease: the engraftment dilemma.

  2011influential reference
• Gene Therapy for Canine Leukocyte Adhesion Deficiency with Lentiviral Vectors Using the Murine Stem Cell Virus and Human Phosphoglycerate Kinase Promoters

  2011cited by this paper
• Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study.

  2011cited by this paper
• Biochemical correction of X-CGD by a novel chimeric promoter regulating high levels of transgene expression in myeloid cells.

  2011cited by this paper
• Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targeting.

  2011cited by this paper
• Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?

  2010cited by this paper
• Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease

  2010cited by this paper
• Stem-cell gene therapy for the Wiskott-Aldrich syndrome.

  2010cited by this paper
• Retrovirus gene therapy for X-linked chronic granulomatous disease can achieve stable long-term correction of oxidase activity in peripheral blood neutrophils.

  2010cited by this paper
• B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia.

  2010cited by this paper
• A self-inactivating lentiviral vector for SCID-X1 gene therapy that does not activate LMO2 expression in human T cells.

  2010cited by this paper
• Lentiviral vectors incorporating a human elongation factor 1α promoter for the treatment of canine leukocyte adhesion deficiency

  2010cited by this paper
• Correction of B-cell development in Btk-deficient mice using lentiviral vectors with codon-optimized human BTK

  2010cited by this paper
• Restoration of NET formation by gene therapy in CGD controls aspergillosis.

  2009cited by this paper
• Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome.

  2009cited by this paper
• Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

  2009cited by this paper
• Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

  2009cited by this paper
• Transgene optimization significantly improves SIN vector titers, gp91phox expression and reconstitution of superoxide production in X-CGD cells

  2009cited by this paper
• How I treat ADA deficiency.

  2009cited by this paper
• lnterleukin-2 Receptor y Chain Mutation Results in X-Linked Severe Combined Immunodeficiency in Humans

  2008cited by this paper
• Self-inactivating gammaretroviral vectors for gene therapy of X-linked severe combined immunodeficiency.

  2008influential reference
• Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells.

  2008cited by this paper
• Successful treatment of canine leukocyte adhesion deficiency by foamy virus vectors

  2008cited by this paper
• Lentivirus gene therapy for purine nucleoside phosphorylase deficiency

  2008cited by this paper
• ZAP-70 Restoration in Mice by In Vivo Thymic Electroporation

  2008cited by this paper
• Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1.

  2008cited by this paper
• Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients.

  2008cited by this paper
• Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients.

  2008cited by this paper
• Development of an enhanced B-specific lentiviral vector expressing BTK: a tool for gene therapy of XLA

  2008cited by this paper
• Correction of the disease phenotype in canine leukocyte adhesion deficiency using ex vivo hematopoietic stem cell gene therapy.

  2006cited by this paper
• Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity.

  2006cited by this paper
• Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning.

  2006cited by this paper
• Complete correction of murine Artemis immunodeficiency by lentiviral vector-mediated gene transfer

  2006cited by this paper
• Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1

  2006cited by this paper
• Highly efficient endogenous human gene correction using designed zinc-finger nucleases

  2005cited by this paper
• In vivo correction of ZAP-70 immunodeficiency by intrathymic gene transfer.

  2005cited by this paper
• Sustained correction of B-cell development and function in a murine model of X-linked agammaglobulinemia (XLA) using retroviral-mediated gene transfer.

  2004cited by this paper
• Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency

  2004cited by this paper
• Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector.

  2004cited by this paper
• Lentiviral vector-mediated gene transfer in T cells from Wiskott-Aldrich syndrome patients leads to functional correction.

  2004cited by this paper
• Gene Therapy for Chronic Granulomatous Disease

  2003cited by this paper
• Persistence and expression of the adenosine deaminase gene for 12 years and immune reaction to gene transfer components: long-term results of the first clinical gene therapy trial.

  2003cited by this paper
• Transcription Start Regions in the Human Genome Are Favored Targets for MLV Integration

  2003cited by this paper
• Gene therapy of RAG-2-/- mice: sustained correction of the immunodeficiency.

  2002cited by this paper
• Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement

  2002cited by this paper
• Correction of ADA-SCID by Stem Cell Gene Therapy Combined with Nonmyeloablative Conditioning

  2002cited by this paper
• Reconstitution of lymphoid development and function in ZAP-70-deficient mice following gene transfer into bone marrow cells.

  2002cited by this paper
• Gene-transferred oligoclonal T cells predominantly persist in peripheral blood from an adenosine deaminase-deficient patient during gene therapy.

  2001cited by this paper
• Gene therapy for immunodeficiency

  2001cited by this paper
• Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.

  2000influential reference
• Gene therapy of chronic granulomatous disease

  2000cited by this paper
• Retrovirus-mediated transduction of primary ZAP-70-deficient human T cells results in the selective growth advantage of gene-corrected cells: implications for gene therapy

  2000cited by this paper
• Gene therapy for leukocyte adhesion deficiency.

  2000cited by this paper
• Self-Selection by Genetically Modified Committed Lymphocyte Precursors Reverses the Phenotype of JAK3-Deficient Mice without Myeloablation

  2000cited by this paper
• Primary immunodeficiency diseases. A molecular and genetic approach.

  1999cited by this paper
• Virus-specific immunity after gene therapy in a murine model of severe combined immunodeficiency.

  1999cited by this paper
• Improved gene transfer into baboon marrow repopulating cells using recombinant human fibronectin fragment CH-296 in combination with interleukin-6, stem cell factor, FLT-3 ligand, and megakaryocyte growth and development factor.

  1998influential reference
• Ex vivo expansion of genetically marked rhesus peripheral blood progenitor cells results in diminished long-term repopulating ability.

  1998cited by this paper
• Retroviral-mediated gene transfer of the leukocyte integrin CD18 into peripheral blood CD34+ cells derived from a patient with leukocyte adhesion deficiency type 1.

  1998cited by this paper
• Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency.

  1998cited by this paper
• Restoration of lymphocyte function in Janus Kinase 3-deficient mice by retroviral-mediated gene transfer

  1998cited by this paper
• Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice

  1998cited by this paper
• Role of class-II major histocompatibility complex (MHC)-antigen-positive donor leukocytes in transfusion-induced alloimmunization to donor class-I MHC antigens.

  1998cited by this paper
• Construction of retroviral vectors carrying human CD3 gamma cDNA and reconstitution of CD3 gamma expression and T cell receptor surface expression and function in a CD3 gamma-deficient mutant T cell line.

  1997cited by this paper
• Correction of defective expression in MHC class II deficiency (bare lymphocyte syndrome) cells by retroviral transduction of CIITA.

  1997cited by this paper
• Construction of Retroviral Vectors Carrying Human CD3γ cDNA and Reconstitution of CD3γ Expression and T Cell Receptor Surface Expression and Function in a CD3γ-Deficient Mutant T Cell Line

  1997cited by this paper
• Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways.

  1996cited by this paper
• In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction

  1996cited by this paper
• Reconstitution of T cell receptor signaling in ZAP-70-deficient cells by retroviral transduction of the ZAP-70 gene

  1996cited by this paper
• Bone marrow gene transfer in three patients with adenosine deaminase deficiency.

  1996cited by this paper
• Improved transfer of the leukocyte integrin CD18 subunit into hematopoietic cell lines by using retroviral vectors having a gibbon ape leukemia virus envelope.

  1995cited by this paper

• Outcomes of Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome.

  2023cites this paper
• NEW METHODS FOR AORTIC DISEASE MODELING USING LENTIVIRAL VECTORS

  2020cites this paper
• EBV Infection and Human Primary Immune Deficiencies

  2020cites this paper
• Molecular dysmorphology

  2020cites this paper
• Common and rare variant prediction and penetrance of IBD in a large, multi-ethnic, health system-based biobank cohort.

  2020cites this paper
• Development and Deployment of Gene Therapies

  2020cites this paper
• Bloody Diarrhea

  2019cites this paper
• CRISPR/Cas9-modified hematopoietic stem cells—present and future perspectives for stem cell transplantation

  2019cites this paper
• New Methods for Disease Modeling Using Lentiviral Vectors.

  2018cites this paper
• Skin signs of primary immunodeficiencies: how to find the genes to check

  2018cites this paper
• X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective

  2018cites this paper
• Efficacy of lentivirus‐mediated gene therapy in an Omenn syndrome recombination‐activating gene 2 mouse model is not hindered by inflammation and immune dysregulation

  2017cites this paper
• Latin American challenges with the diagnosis and treatment of primary immunodeficiency diseases

  2017cites this paper
• Platelets in Wiskott‐Aldrich syndrome: Victims or executioners?

  2017cites this paper
• Gene therapy for primary immune deficiencies: a Canadian perspective

  2017cites this paper
• Severe Combined Immune Deficiency

  2016cites this paper