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- 1. Genetically Determined Immunodeficiency Diseases: A Perspective
- 2. Genetic Principles and Technologies in the Study of Immune Disorders
- 3. Mammalian Hematopoietic Development and Function
- 4. T-Cell Development
- 5. Molecular Mechanisms Guiding B-Cell Development
- 6. Signal Transduction by T- and B-Lymphocyte Antigen Receptors
- 7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses
- 8. Innate Immunity
- 9. Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID)
- 10. Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3 and STAT5B)
- 11. T-Cell Receptor Complex Deficiency
- 12. Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene
- 13. V(D)J Recombination Defects
- 14. Immunodeficiency Due to Defects of Purine Metabolism
- 15. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck)
- 16. Molecular Basis of Major Histocompatibility Complex Class II Deficiency
- 17. Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency
- 18. Reticular Dysgenesis
- 19. CD8 Deficiency
- 20. CRAC Channelopathies Due to Mutations in ORAI1 and STIM1
- 21. Deficiency of FOXN1
- 22. Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1
- 23. Severe Combined Immunodeficiency Due to Absent Coronin-1A
- 24. Brief Introduction to B-Lymphocyte Defects
- 25. X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia
- 26. CD40 and CD40 Ligand Deficiencies
- 27. Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect
- 28. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency
- 29. Introduction to Syndromes of Immune Dysregulation and Autoimmunity
- 30. Autoimmune Lymphoproliferative Syndrome
- 31. Autoimmune Polyglandular Syndrome Type 1
- 32. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance
- 33. Recurrent Fever Syndromes
- 34. Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders
- 35. Inherited Disorders of the Interleukin-12–Interleukin-23/Interferon-γ Circuit
- 36. Inborn Errors of NF-kB Immunity
- 37. Cartilage-Hair Hypoplasia
- 38. Hyper-IgE Recurrent Infection Syndromes
- 39. Hepatic Veno-Occlusive Disease with Immunodeficiency
- 40. WHIM Syndrome
- 41. Pulmonary Alveolar Proteinosis
- 42. Role Of TMC6 And TMC8 Genes And Ever Proteins In Epidermodysplasia Verruciformis
- 43. Wiskott-Aldrich Syndrome
- 44. X-Linked Lymphoproliferative Diseases
- 45. DiGeorge Syndrome
- 46. Introduction to Disorders Associated with DNA Repair and Methylation Defects
- 47. Ataxia-Telangiectasia
- 48. Chromosomal Instability Syndromes Other than Ataxia-Telangiectasia
- 49. Immunodeficiency with Centromere Instability and Facial Anomalies (ICF Syndrome)
- 50. Introduction to Granulocyte Disorders
- 51. Severe Congenital Neutropenia
- 52. Chronic Granulomatous Disease
- 53. Cell Adhesion and Leukocyte Adhesion Defects
- 54. Inherited Hemophagocytic Lymphohistiocytosis Syndromes
- 55. Genetically Determined Deficiencies of Complement Components
- 56. Assessment of the Immune System
- 57. Genetic Aspects of Primary Immunodeficiencies
- 58. Immunodeficiency Information Resources
- 59. Conventional Therapy of Primary Immunodeficiency Diseases
- 60. Bone Marrow Transplantation for Primary Immunodeficiency Diseases
- 61. Gene Therapy
(p. 876) Gene Therapy
(p. 876)
Gene Therapy
- Chapter:
- (p. 876) Gene Therapy
- Author(s):
Fabio Candotti
and Alain Fischer
- DOI:
- 10.1093/med/9780195389838.003.0061
Primary immunodeficiency diseases are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This chapter focuses on Gene Therapy, including the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings. Where appropriate, diagnostic tools and therapeutic options are outlined -- from prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy.
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- 1. Genetically Determined Immunodeficiency Diseases: A Perspective
- 2. Genetic Principles and Technologies in the Study of Immune Disorders
- 3. Mammalian Hematopoietic Development and Function
- 4. T-Cell Development
- 5. Molecular Mechanisms Guiding B-Cell Development
- 6. Signal Transduction by T- and B-Lymphocyte Antigen Receptors
- 7. Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses
- 8. Innate Immunity
- 9. Introduction to Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID)
- 10. Severe Combined Immunodeficiency and Combined Immunodeficiency Due to Cytokine Signaling Defects (IL2RG, JAK3, IL7R, IL2RA, JAK3 and STAT5B)
- 11. T-Cell Receptor Complex Deficiency
- 12. Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene
- 13. V(D)J Recombination Defects
- 14. Immunodeficiency Due to Defects of Purine Metabolism
- 15. SCID Due to Defects in T-Cell-Receptor-Associated Protein Kinases (ZAP-70 and Lck)
- 16. Molecular Basis of Major Histocompatibility Complex Class II Deficiency
- 17. Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency
- 18. Reticular Dysgenesis
- 19. CD8 Deficiency
- 20. CRAC Channelopathies Due to Mutations in ORAI1 and STIM1
- 21. Deficiency of FOXN1
- 22. Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1
- 23. Severe Combined Immunodeficiency Due to Absent Coronin-1A
- 24. Brief Introduction to B-Lymphocyte Defects
- 25. X-linked Agammaglobulinemia and Autosomal Recessive Agammaglobulinemia
- 26. CD40 and CD40 Ligand Deficiencies
- 27. Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect
- 28. Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency
- 29. Introduction to Syndromes of Immune Dysregulation and Autoimmunity
- 30. Autoimmune Lymphoproliferative Syndrome
- 31. Autoimmune Polyglandular Syndrome Type 1
- 32. Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance
- 33. Recurrent Fever Syndromes
- 34. Introduction to Innate Immunity and Syndromic Primary Immunodeficiency Disorders
- 35. Inherited Disorders of the Interleukin-12–Interleukin-23/Interferon-γ Circuit
- 36. Inborn Errors of NF-kB Immunity
- 37. Cartilage-Hair Hypoplasia
- 38. Hyper-IgE Recurrent Infection Syndromes
- 39. Hepatic Veno-Occlusive Disease with Immunodeficiency
- 40. WHIM Syndrome
- 41. Pulmonary Alveolar Proteinosis
- 42. Role Of TMC6 And TMC8 Genes And Ever Proteins In Epidermodysplasia Verruciformis
- 43. Wiskott-Aldrich Syndrome
- 44. X-Linked Lymphoproliferative Diseases
- 45. DiGeorge Syndrome
- 46. Introduction to Disorders Associated with DNA Repair and Methylation Defects
- 47. Ataxia-Telangiectasia
- 48. Chromosomal Instability Syndromes Other than Ataxia-Telangiectasia
- 49. Immunodeficiency with Centromere Instability and Facial Anomalies (ICF Syndrome)
- 50. Introduction to Granulocyte Disorders
- 51. Severe Congenital Neutropenia
- 52. Chronic Granulomatous Disease
- 53. Cell Adhesion and Leukocyte Adhesion Defects
- 54. Inherited Hemophagocytic Lymphohistiocytosis Syndromes
- 55. Genetically Determined Deficiencies of Complement Components
- 56. Assessment of the Immune System
- 57. Genetic Aspects of Primary Immunodeficiencies
- 58. Immunodeficiency Information Resources
- 59. Conventional Therapy of Primary Immunodeficiency Diseases
- 60. Bone Marrow Transplantation for Primary Immunodeficiency Diseases
- 61. Gene Therapy
