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Review

Gene therapy for the treatment of adenosine deaminase-deficient severe combined immune deficiency

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Pages 477-485 | Received 10 Mar 2017, Accepted 27 Apr 2017, Published online: 22 May 2017

References

  • Knudsen BB, Dissing J. Adenosine deaminase deficiency in a child with severe combined immunodeficiency. Clin Genet. 1973;4(4):344–347.
  • Whitmore KV, Gaspar HB. Adenosine deaminase deficiency – more than just an immunodeficiency. Front Immunol. 2016;7:314.
  • Bory C, Boulieu R, Souillet G, et al. Effect of polyethylene glycol-modified adenosine deaminase (PEG-ADA) therapy in two ADA-deficient children: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool. Adv Exp Med Biol. 1991;309A:173–176.
  • Hassan A, Booth C, Brightwell A, et al. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood. 2012 Oct 25;120(17):3615–3624.
  • Eapen M, O’Donnell P, Brunstein CG, et al. Mismatched related and unrelated donors for allogeneic hematopoietic cell transplantation for adults with hematologic malignancies. Biol Blood Marrow Transplant. 2014 may 23;20(10):1485–1492.
  • Blaese RM, Culver KW, Miller AD, et al. T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years. Science. 1995 Oct 20;270(5235):475–480.
  • Bordignon C, Notarangelo LD, Nobili N, et al. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients. Science. 1995 Oct 20;270(5235):470–475.
  • Hoogerbrugge PM, van Beusechem VW, Fischer A, et al. Bone marrow gene transfer in three patients with adenosine deaminase deficiency. Gene Ther. 1996 Feb;3(2):179–183.
  • Kohn DB, Weinberg KI, Nolta JA, et al. Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. Nat Med. 1995 Oct;1(10):1017–1023.
  • Onodera M, Ariga T, Kawamura N, et al. Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. Blood. 1998 Jan 01;91(1):30–36.
  • Ariga T. Hematopoietic stem cell gene therapy for two patients with ADA deficiency without cytoreductive conditioning. J Gene Med 2008. 2009;11:1138–1190.
  • Candotti F, Shaw KL, Muul L, et al. Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood. 2012 Nov 01;120(18):3635–3646.
  • Schmidt M, Carbonaro DA, Speckmann C, et al. Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates. Nat Med. 2003 Apr;9(4):463–468.
  • Aiuti A, Vai S, Mortellaro A, et al. Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement. Nat Med. 2002 May;8(5):423–425.
  • Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science. 2002 Jun 28;296(5577):2410–2413.
  • Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009 Jan 29;360(5):447–458.
  • Sauer AV, Morbach H, Brigida I, et al. Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. J Clin Invest. 2012 Jun;122(6):2141–2152.
  • Brigida I, Sauer AV, Ferrua F, et al. B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients. J Allergy Clin Immunol. 2014 Mar;133(3):799–806e10.
  • Cassani B, Mirolo M, Cattaneo F, et al. Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients. Blood. 2008 Apr 15;111(8):4209–4219.
  • Sauer AV, Brigida I, Carriglio N, et al. Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID. Blood. 2012 Feb 09;119(6):1428–1439.
  • Sauer AV, Mrak E, Hernandez RJ, et al. ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency. Blood. 2009 Oct 08;114(15):3216–3226.
  • Cicalese MP, Ferrua F, Castagnaro L, et al. Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. Blood. 2016 Jul 07;128(1):45–54.
  • Aiuti A, Cassani B, Andolfi G, et al. Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy. J Clin Invest. 2007 Aug;117(8):2233–2240.
  • Grunebaum E, Chung CT, Dadi H, et al. Purine metabolism, immune reconstitution, and abdominal adipose tumor after gene therapy for adenosine deaminase deficiency. J Allergy Clin Immunol. 2011 Jun;127(6):1417–9e3.
  • Kesserwan C, Sokolic R, Cowen EW, et al. Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency. J Allergy Clin Immunol. 2012 Mar;129(3):762–69e1.
  • Sokolic R, Koh C. Komarow H, Garabedian E, Silvin CEC, et al. The expanding clinical phenotype of adenosine deaminase (ADA) deficiency. J Clin Immunol. 2014;34(Suppl 2):S329.
  • Gaspar HB, Bjorkegren E, Parsley K, et al. Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning. Mol Ther. 2006 Oct;14(4):505–513.
  • Gaspar HB, Cooray S, Gilmour KC, et al. Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. Sci Transl Med. 2011 Aug 24;3(97):97ra80.
  • Engel BC, Podsakoff GM, Ireland JL, et al. Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. Blood. 2007 Jan 15;109(2):503–506.
  • Shaw KL, Garabedian E, Sokolic R, et al. Phase II clinical trial of gene therapy for adenosine deaminase-deficient severe combined immune deficiency (ADA-SCID) using a γ-retroviral vector. Mol Ther. 2015;23(Supplement 1):S13–S14.
  • Sokolic R, Maric I, Kesserwan C, et al. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood. 2011 Sep 08;118(10):2688–2694.
  • Shaw K, Garabedian E, Mishra S, et al. A phase II clinical trial of gene therapy for adenosine deaminase-deficient severe combined immune deficiency using a gamma-retroviral vector and reduced intensity conditioning. J Clin Investig. 2017 May ;127(5):1689–1699.
  • Schimmer J, Breazzano S. Investor outlook: rising from the ashes; GSK’s European approval of Strimvelis for ADA-SCID. Hum Gene Ther Clin Dev. 2016 Jun;27(2):57–61.
  • Hacein-Bey-Abina S, von Kalle C, Schmidt M, et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med. 2003 Jan 16;348(3):255–256.
  • Hacein-Bey-Abina S, Von Kalle C, Schmidt M, et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science. 2003 Oct 17;302(5644):415–419.
  • Hacein-Bey-Abina S, Garrigue A, Wang GP, et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest. 2008 Sep;118(9):3132–3142.
  • Howe SJ, Mansour MR, Schwarzwaelder K, et al. Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest. 2008 Sep;118(9):3143–3150.
  • Stein S, Ott MG, Schultze-Strasser S, et al. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med. 2010 Feb;16(2):198–204.
  • Cassani B, Montini E, Maruggi G, et al. Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy. Blood. 2009 Oct 22;114(17):3546–3556.
  • Braun CJ, Boztug K, Paruzynski A, et al. Gene therapy for Wiskott-Aldrich syndrome – long-term efficacy and genotoxicity. Sci Transl Med. 2014 Mar 12;6(227):227ra33.
  • Kohn DB, Gaspar HB. How we manage adenosine deaminase-deficient severe combined immune deficiency (ADA SCID). J Clin Immunol. 2017 May;37(4):351–356.
  • Carbonaro DA, Jin X, Wang X, et al. Gene therapy/bone marrow transplantation in ADA-deficient mice: roles of enzyme-replacement therapy and cytoreduction. Blood. 2012 Nov 01;120(18):3677–3687.
  • Russell JA, Kangarloo SB. Therapeutic drug monitoring of busulfan in transplantation. Curr Pharm Des. 2008;14(20):1936–1949.
  • Aiuti A. Advances in gene therapy for ADA-deficient SCID. Curr Opin Mol Ther. 2002 Oct;4(5):515–522.
  • Sokolic R, Garabedian E, Shaw K, et al. Systemic effects of PEG-ADA withdrawal with or without chemotherapy (CHTX) and cytotherapy (CTX) in adenosine deaminase-deficient severe combined immune deficiency (ADA-SCID). J Clin Immunol. 2012;32:404.
  • Yulish BS, Stern RC, Polmar SH. Partial resolution of bone lesions. A child with severe combined immunodeficiency disease and adenosine deaminase deficiency after enzyme-replacement therapy. Am J Dis Child. 1980 Jan;134(1):61–63.
  • Booth C, Algar VE, Xu-Bayford J, et al. Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. J Clin Immunol. 2012 Jun;32(3):449–453.
  • Bollinger ME, Arredondo-Vega FX, Santisteban I, et al. Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. N Engl J Med. 1996 May 23; 334(21):1367–1371.
  • Ratech H, Greco MA, Gallo G, et al. Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol. 1985 Jul;120(1):157–169.
  • Ratech H, Hirschhorn R, Greco MA. Pathologic findings in adenosine deaminase deficient-severe combined immunodeficiency. II. Thymus, spleen, lymph node, and gastrointestinal tract lymphoid tissue alterations. Am J Pathol. 1989 Dec;135(6):1145–1156.
  • Manson D, Diamond L, Oudjhane K, et al. Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life. Pediatr Radiol. 2013 Mar;43(5):589–592.
  • Albuquerque W, Gaspar HB. Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. J Pediatr. 2004 Feb;144(2):278–280.
  • Honig M, Albert MH, Schulz A, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood. 2007 Apr 15;109(8):3595–3602.
  • Titman P, Pink E, Skucek E, et al. Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood. 2008 Nov 01;112(9):3907–3913.
  • Sauer AV, Hernandez RJ, Fumagalli F, et al. Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients. Sci Rep. 2017 Jan;11(7):40136.
  • Somech R, Lai YH, Grunebaum E, et al. Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency. J Allergy Clin Immunol. 2009 Oct;124(4):848–850.
  • Grunebaum E, Cutz E, Roifman CM. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol. 2012 Jun;129(6):1588–1593.
  • Komarow HD, Sokolic R, Hershfield MS, et al. Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. Orphanet J Rare Dis. 2015 Dec;18(10):159.

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