How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID)

Journal of Clinical Immunology

Volumn 37, Issue 4, 2017, Pages 351-356

  Kohn, Donald B ^a   Gaspar, H Bobby ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

adenosine deaminase deficiency; enzyme replacement therapy; gene therapy; hematopoietic stem cell transplantation; Severe combined immune deficiency

Indexed keywords

ADENOSINE DEAMINASE; HLA ANTIGEN;

ADENOSINE DEAMINASE DEFICIENCY; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; DONOR; ENZYME REPLACEMENT; FAMILY; HLA MATCHING; HUMAN; PRIORITY JOURNAL; THERAPY EFFECT; VIRAL GENE THERAPY; AGAMMAGLOBULINEMIA; ALGORITHM; DEFICIENCY; EARLY DIAGNOSIS; GENE THERAPY; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOCOMPATIBILITY; IMMUNOLOGY; NEWBORN; NEWBORN SCREENING; SEVERE COMBINED IMMUNODEFICIENCY;

ADENOSINE DEAMINASE; AGAMMAGLOBULINEMIA; ALGORITHMS; EARLY DIAGNOSIS; ENZYME REPLACEMENT THERAPY; GENETIC THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOCOMPATIBILITY; HLA ANTIGENS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 85012287733     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-017-0373-y     Document Type: Article

References (25)

1. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312:729–38.
2. Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD. How I treat ADA deficiency. Blood. 2009;114:3524–32.
3. Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, et al. Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and European Society for Immunodeficiency. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood. 2012;120:3615–24.
4. 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.
5. Gaspar HB, Cooray S, Gilmour KC, Parsley KL, Zhang F, Adams S, 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;3:97ra80.
6. Candotti F, Shaw KL, Muul L, Carbonaro D, Sokolic R, Choi C, et al. Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood. 2012;120:3635–46.
7. Shaw KL, Garabedian E, Mishra S, Barman P, Davila D, Carbonaro D, 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 Invest, In Press.
8. Gaspar HB, Qasim W, Davies EG, Rao K, Amrolia PJ, Veys P. How I treat severe combined immunodeficiency. Blood. 2013;122:3749–58.
9. Parkman R, Gelfand EW, Rosen FS, Sanderson A, Hirschhorn R. Severe combined immunodeficiency and adenosine deaminase deficiency. N Engl J Med. 1975;292:714–9.
10. Griffith LM, Cowan MJ, Kohn DB, Notarangelo LD, Puck JM, Schultz KR, et al. Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol. 2008;122:1087–96.
11. Polmar SH, Stern RC, Schwartz AL, Wetzler EM, Chase PA, Hirschhorn R. Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. N Engl J Med. 1976;295:1337–43.
12. Hershfield MS, Buckley RH, Greenberg ML, Melton AL, Schiff R, Hatem C, et al. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. N Engl J Med. 1987;316:589–96.
13. Chan B, Wara D, Bastian J, Hershfield MS, Bohnsack J, Azen CG, et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin Immunol. 2005;117:133–43.
14. Carbonaro DA, Jin X, Wang X, Yu XJ, Rozengurt N, Kaufman ML, et al. Gene therapy/bone marrow transplantation in ADA-deficient mice: roles of enzyme-replacement therapy and cytoreduction. Blood. 2012;120:3677–87.
15. Grunebaum E, Cutz E, Roifman CM. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol. 2012;129:1588–93.
16. Booth C, Algar VE, Xu-Bayford J, Fairbanks L, Owens C, Gaspar HB. Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. J Clin Immunol. 2012;32:449–53.
17. Airoldi I, Bertaina A, Prigione I, Zorzoli A, Pagliara D, Cocco C, et al. γδ T-cell reconstitution after HLA-haploidentical hematopoietic transplantation depleted of TCR-αβ+/CD19+ lymphocytes. Blood. 2015;125:2349–58.
18. Kohn DB. Gene therapy for primary immune deficiencies: ADA SCID and XCGD. Human Gene Ther. 2016;27:A17–8.
19. Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science. 2002;296:2410–3.
20. Carbonaro DA, Zhang L, Jin X, Montiel-Equihua C, Geiger S, Carmo M, et al. Preclinical demonstration of lentiviral vector-mediated correction of immunological and metabolic abnormalities in models of adenosine deaminase deficiency. Mol Ther. 2015;22:607–22.
21. 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 SCID-X1. J Clin Invest. 2008;118:3132–42.
22. Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Kinner A, et al. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med. 2010;16:198–204.
23. Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, et al. Gene therapy for Wiskott-Aldrich syndrome—long-term efficacy and genotoxicity. Sci Transl Med. 2014;6:227ra33.
24. Aiuti A, Cassani B, Andolfi G, Mirolo M, Biasco L, Recchia A, et al. Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy. J Clin Invest. 2007;117:2233–40.
25. Titman P, Pink E, Skucek E, O’Hanlon K, Cole TJ, Gaspar J, Xu-Bayford J, Jones A, Thrasher AJ, Davies EG, Veys PA, Gaspar HB. Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood. 2008;112:3907–13.