Stem Cell Transplantation and Gene Therapy in Patients with Primary Immunodeficiency Diseases

Taha Ulutan KARSa
aKonya City Hospital, Clinic of Hematology, Konya, Türkiye

Kars TU. Stem cell transplantation and gene therapy in patients with primary immunodeficiency diseases. Çölkesen F, ed. Primary Immunodeficiency Diseases in Adults. 1st ed. Ankara: Türkiye Klinikleri; 2024. p.125-8.

ABSTRACT
Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) have become important in the treatment of patients with primary immunodeficiency (PID), which has an increased incidence in countries where consanguineous marriages are common. Today, with advancing biotechnology, new genetic mutations can be identified and diagnosed at an early age. Current treatment approaches such as HSCT and GT aim to increase both life expectancy and quality of life in patients with PID. HSCT and GT performed at an early age, before disease symptoms progress and comorbidity develops, are mostly successful.

Keywords: Primary immunodeficency disease; hematopoietic stem cell transplantation; gene therapy

Referanslar

  1. Lankester AC, Albert MH, Booth C, Gennery AR, Güngör T, Hönig M, et al. "EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity." Bone Marrow Transplantation. 2021;56.9:2052-62. [Crossref]  [PubMed]  [PMC]
  2. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, et al. Primary immune deficiency treatment consortium (PIDTC) update. Journal of Allergy and Clinical Immunology. 2016;138(2):375-85. [Crossref]  [PubMed]  [PMC]
  3. Gatti R, Meuwissen H, Allen H, Hong R, Good R. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. The Lancet. 1968;292(7583):1366-9. [Crossref]  [PubMed]
  4. Martin-Hernandez MP, Arrieta R, Martinez A, Garcia P, Jimenez-Yuste V, Hernandez-Navarro F. Haploidentical peripheral blood stem cell transplantation with a combination of CD34 selection and T cell depletion as graft-versus-host disease prophylaxis in a patient with severe combined immunodeficiency. Bone marrow transplantation. 1997;20(9):797-9. [Crossref]  [PubMed]
  5. O'Reilly RJ, Dupont B, Pahwa S, Grimes E, Smithwick EM, Pahwa R, et al. Reconstitution in severe combined immunodeficiency by transplantation of marrow from an unrelated donor. New England Journal of Medicine. 1997;297(24):1311-8. [Crossref]  [PubMed]
  6. Munirathnam D, Scott J, Kumar V. Primary immune deficiencies and stem cell transplantation. Sri Lanka Journal of Child Health. 2017;46(1):3-15. [Crossref]
  7. Gennery AR, Cant AJ. Cord blood stem cell transplantation in primary immune deficiencies. Curr Opin Allergy Clin Immunol. 2007;7(6):528-34. [Crossref]  [PubMed]
  8. Grunebaum E, Mazzolari E, Porta F, Dallera D, Atkinson A, Reid B, et al. Bone marrow transplantation for severe combined immune deficiency. JAMA. 2006; 295(5):508-18. [Crossref]  [PubMed]
  9. European Blood Marrow and Transplantation (EBMT) and European Society for Immunodeficiencies (ESID). Guidelines for hematopoietic stem cell transplantation for primary immunodeficiencies. 2017:1-43.
  10. Wahlstrom JT, Dvorak CC, Cowan MJ. Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency. Curr Pediatr Rep. 2015;3(1):1-10. [Crossref]  [PubMed]  [PMC]
  11. Dorsey MJ, Dvorak CC, Cowan MJ. Puck JM. Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening. Journal of Allergy and Clinical Immunology. 2017;139(3):733-42. [Crossref]  [PubMed]  [PMC]
  12. Rao K, Amrolia PJ, Jones A, Cale CM, Naik P, King D, et al. Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen. Blood. 2005;105(2):879-85. [Crossref]  [PubMed]
  13. Bertrand Y, Landais P, Friedrich W, Gerritsen B, Morgan G, Fasth A, et al. Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantationA retrospective European survey from the European Group for Bone Marrow Transplantation and the European Society for Immunodeficiency. The Journal of pediatrics. 1999;134(6):740-8. [Crossref]  [PubMed]
  14. Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, et al. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood, The Journal of the American Society of Hematology. 2017;130(25):2718-27. [Crossref]  [PubMed]  [PMC]
  15. Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?. Journal of allergy and clinical immunology. 2010;126(3):602-10. [Crossref]  [PubMed]
  16. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, et al. Primary immune deficiency treatment consortium (PIDTC) report. Journal of allergy and clinical immunology. 2014;133(2):335-47. [Crossref]  [PubMed]  [PMC]
  17. Slatter MA, Rao K, Abd Hamid IJ, Nademi Z, Chiesa R, Elfeky R, et al. Treosulfan and fludarabine conditioning for hematopoietic stem cell transplantation in children with primary immunodeficiency: UK experience. Biology of Blood and Marrow Transplantation. 2018;24(3):529-36. [Crossref]  [PubMed]
  18. Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. The Lancet. 2014;383(9915):436-48. [Crossref]  [PubMed]
  19. Neven B, Leroy S, Decaluwe H, Le Deist F, Picard C, Moshous D, et al. Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood, The Journal of the American Society of Hematology. 2009;113(17):4114-24. [Crossref]  [PubMed]
  20. Cavazzana-Calvo M, Carlier F, Le Deist F, Morillon E, Taupin P, Gautier D, et al. Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype. Blood. 2007;109(10):4575-81. [Crossref]  [PubMed]
  21. Eapen M, Ahn KW, Orchard PJ, Cowan MJ, Davies SM, Fasth A, et al. Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism. Biology of Blood and Marrow Transplantation. 2012;18(9):1438-45. [Crossref]  [PubMed]  [PMC]
  22. Bordignon C, Raffaele HS. Gene therapy in Europe. Hum. Gene Ther. 1995;6:709-10. [Crossref]  [PubMed]
  23. Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N. Engl. J. Med., 2009;360:447-58. [Crossref]  [PubMed]
  24. Cicalese MP, Ferrua F, Castagnaro L, Rolfe K, De Boever E, Reinhardt RR, et al. Gene therapy for adenosine deaminase deficiency: a comprehensive evaluation of short- and medium-term safety. Mol. Ther. 2018;26:917-31. [Crossref]  [PubMed]  [PMC]
  25. Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, et al. Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. Blood. 2016;128:45-54. [Crossref]  [PubMed]  [PMC]
  26. Hacein-Bey-Abina S, Garrigue A, Wang GP, Soulier J, Lim A, Morillon E, et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCIDX1. J. Clin. Invest. 2008;118:3132-42. [Crossref]  [PubMed]  [PMC]
  27. Farinelli G, Capo V, Scaramuzza S, Aiuti A. Lentiviral vectors for the treatment of primary immunodeficiencies. J. Inherit. Metab. Dis. 2014;37:525-33. [Crossref]  [PubMed]
  28. Aiuti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese MP, Baricordi C, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science. 2013;341:1233151. [Crossref]  [PubMed]  [PMC]
  29. Kuo CY, Kohn DB. Gene therapy for the treatment of primary immune deficiencies. Current allergy and asthma reports. 2016;16:1-8. [Crossref]  [PubMed]  [PMC]
  30. Cavazzana M, Six E, Lagresle-Peyrou C, André-Schmutz I, Hacein-Bey-Abina S. Gene therapy for X-linked severe combined immunodeficiency: where do we stand?. Human gene therapy. 2016;27(2):108-16. [Crossref]  [PubMed]  [PMC]
  31. De Ravin SS, Wu X, Moir S, Kardava L, Anaya-O'Brien S, Kwatemaa N, et al. Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. Science translational medicine. 2016;8(335):335ra57-335ra57. [Crossref]  [PubMed]  [PMC]