Gene therapy for primary immunodeficiencies: Part 1

Current Opinion in Immunology

Volumn 24, Issue 5, 2012, Pages 580-584

  Cavazzana Calvo, Marina ^a,b,c,d   Fischer, Alain ^a,b,c   Hacein Bey Abina, Salima ^b,c,d   Aiuti, Alessandro ^e,f  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

^f UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; INTERLEUKIN 2 RECEPTOR GAMMA; LENTIVIRUS VECTOR; PEGADEMASE; RETROVIRUS VECTOR;

ADENOSINE DEAMINASE DEFICIENCY; CLINICAL TRIAL (TOPIC); DRUG SAFETY; DRUG TOLERABILITY; ENGRAFTMENT; ENZYME REPLACEMENT; GENE EXPRESSION REGULATION; GENE TARGETING; GENE THERAPY; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IMMUNE RESPONSE; INTERMETHOD COMPARISON; NONHUMAN; OUTCOME ASSESSMENT; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; REVIEW; RISK BENEFIT ANALYSIS; SEVERE COMBINED IMMUNODEFICIENCY; STEM CELL GENE THERAPY; SURVIVAL RATE; T CELL LEUKEMIA; UNSPECIFIED SIDE EFFECT; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

ADENOSINE DEAMINASE; ANIMALS; CLINICAL TRIALS AS TOPIC; DISEASE MODELS, ANIMAL; GENETIC THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; X-LINKED COMBINED IMMUNODEFICIENCY DISEASES;

EID: 84867742516     PISSN: 09527915     EISSN: 18790372     Source Type: Journal    
DOI: 10.1016/j.coi.2012.08.008     Document Type: Review

References (34)

1. Rochman Y., Spolski R., Leonard W.J. New insights into the regulation of T cells by gamma(c) family cytokines. Nat Rev Immunol 2009, 9:480-490.
2. Bousso P., Wahn V., Douagi I., Horneff G., Pannetier C., Le Deist F., Zepp F., Niehues T., Kourilsky P., Fischer A., et al. Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor. Proc Natl Acad Sci U S A 2000, 97:274-278.
3. Fischer A., Hacein-Bey-Abina S., Cavazzana-Calvo M. Gene therapy for primary adaptive immune deficiencies. J Allergy Clin Immunol 2011, 127:1356-1359.
4. Kohn D.B. Update on gene therapy for immunodeficiencies. Clin Immunol 2010, 135:247-254.
5. Hacein-Bey-Abina S., Hauer J., Lim A., Picard C., Wang G.P., Berry C.C., Martinache C., Rieux-Laucat F., Latour S., Belohradsky B.H., et al. Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 2010, 363:355-364.
6. Gaspar H.B., Cooray S., Gilmour K.C., Parsley K.L., Adams S., Howe S.J., Al Ghonaium A., Bayford J., Brown L., Davies E.G., et al. Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency. Sci Transl Med 2011, 3:97ra79.
7. Thrasher A.J., Hacein-Bey-Abina S., Gaspar H.B., Blanche S., Davies E.G., Parsley K., Gilmour K., King D., Howe S., Sinclair J., et al. Failure of SCID-X1 gene therapy in older patients. Blood 2005, 105:4255-4257.
8. Chinen J., Davis J., De Ravin S.S., Hay B.N., Hsu A.P., Linton G.F., Naumann N., Nomicos E.Y., Silvin C., Ulrick J., et al. Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. Blood 2007, 110:67-73.
9. Cavazzana-Calvo M., Fischer A., Bushman F.D., Payen E., Hacein-Bey-Abina S., Leboulch P. Is normal hematopoiesis maintained solely by long-term multipotent stem cells?. Blood 2011, 117:4420-4424.
10. Gennery A.R., Slatter M.A., Grandin L., Taupin P., Cant A.J., Veys P., Amrolia P.J., Gaspar H.B., Davies E.G., Friedrich W., et al. Transplantation of hematopoietic stem cells and long term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?. J Allergy Clin Immunol 2010, 126:602-610.
11. Hacein-Bey-Abina S., Garrigue A., Wang G.P., Soulier J., Lim A., Morillon E., Clappier E., Caccavelli L., Delabesse E., Beldjord K., et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest 2008, 118:3132-3142.
12. Howe S.J., Mansour M.R., Schwarzwaelder K., Bartholomae C., Hubank M., Kempski H., Brugman M.H., Pike-Overzet K., Chatters S.J., de Ridder D., et al. Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest 2008, 118:3143-3150.
13. Wang G.P., Berry C.C., Malani N., Leboulch P., Fischer A., Hacein-Bey-Abina S., Cavazzana-Calvo M., Bushman F.D. Dynamics of gene-modified progenitor cells analyzed by tracking retroviral integration sites in a human SCID-X1 gene therapy trial. Blood 2010, 115:4356-4366.
14. Gaspar H.B., Cooray S., Gilmour K.C., Parsley K.L., Zhang F., Adams S., Bjorkegren E., Bayford J., Brown L., Davies E.G., 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.
15. Aiuti A., Cattaneo F., Galimberti S., Benninghoff U., Cassani B., Callegaro L., Scaramuzza S., Andolfi G., Mirolo M., Brigida I., et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 2009, 360:447-458.
16. Aiuti A., Cassani B., Andolfi G., Mirolo M., Biasco L., Recchia A., Urbinati F., Valacca C., Scaramuzza S., Aker M., et al. Multilineage hematopoietic reconstitution without clonal selection in ADA-SCID patients treated with stem cell gene therapy. J Clin Invest 2007, 117:2233-2240.
17. Cassani B., Montini E., Maruggi G., Ambrosi A., Mirolo M., Selleri S., Biral E., Frugnoli I., Hernandez-Trujillo V., Di Serio C., 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, 114:3546-3556.
18. Holt N., Wang J., Kim K., Friedman G., Wang X., Taupin V., Crooks G.M., Kohn D.B., Gregory P.D., Holmes M.C., et al. Human hematopoietic stem/progenitor cells modified by zinc-finger nucleases targeted to CCR5 control HIV-1 in vivo. Nat Biotechnol 2010, 28:839-847.
19. Naldini L. Ex vivo gene transfer and correction for cell-based therapies. Nat Rev Genet 2011, 12:301-315.
20. Gabriel R., Lombardo A., Arens A., Miller J.C., Genovese P., Kaeppel C., Nowrouzi A., Bartholomae C.C., Wang J., Friedman G., et al. An unbiased genome-wide analysis of zinc-finger nuclease specificity. Nat Biotechnol 2011, 29:816-823.
21. Gaspar H.B., Aiuti A., Porta F., Candotti F., Hershfield M.S., Notarangelo L.D. How I treat ADA deficiency. Blood 2009, 114:3524-3532.
22. Hassan A., Booth C., Brightwell A., Allwood Z., Veys P., Rao K., Honig M., Friedrich W., Gennery A.R., Slatter M., et al. Outcome of haematopoietic stem cell transplantation for adenosine deaminase deficient severe combined immunodeficiency. Blood 2012, (Epub ahead of print). 10.1182/blood-2011-12-396879.
23. Montiel-Equihua C.A., Thrasher A.J., Gaspar H.B. Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency. Curr Gene Ther 2012, 12:57-65.
24. Selleri S., Brigida I., Casiraghi M., Scaramuzza S., Cappelli B., Cassani B., Ferrua F., Aker M., Slavin S., Scarselli A., et al. In vivo T-cell dynamics during immune reconstitution after hematopoietic stem cell gene therapy in adenosine deaminase severe combined immune deficiency. J Allergy Clin Immunol 2011, 127:1368-1375.
25. Sauer A.V., Brigida I., Carriglio N., Hernandez R.J., Scaramuzza S., Clavenna D., Sanvito F., Poliani P.L., Gagliani N., Carlucci F., 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 2011, 119:1428-1439.
26. Sauer A.V., Morbach H., Brigida I., Ng Y.S., Aiuti A., Meffre E. Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy. J Clin Invest 2012, 122:2141-2152.
27. Sauer A.V., Mrak E., Hernandez R.J., Zacchi E., Cavani F., Casiraghi M., Grunebaum E., Roifman C.M., Cervi M.C., Ambrosi A., et al. ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency. Blood 2009, 114:3216-3226.
28. Biasco L., Ambrosi A., Pellin D., Bartholomae C., Brigida I., Roncarolo M.G., Di Serio C., von Kalle C., Schmidt M., Aiuti A. Integration profile of retroviral vector in gene therapy treated patients is cell-specific according to gene expression and chromatin conformation of target cell. EMBO Mol Med 2011, 3:89-101.
29. Neven B., Leroy S., Decaluwe H., Le Deist F., Picard C., Moshous D., Mahlaoui N., Debre M., Casanova J.L., Dal Cortivo L., et al. Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood 2009, 113:4114-4124.
30. Benjelloun F., Garrigue A., Demerens-de Chappedelaine C., Soulas-Sprauel P., Malassis-Seris M., Stockholm D., Hauer J., Blondeau J., Riviere J., Lim A., et al. Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. Mol Ther 2008, 16:1490-1499.
31. Lagresle-Peyrou C., Benjelloun F., Hue C., Andre-Schmutz I., Bonhomme D., Forveille M., Beldjord K., Hacein-Bey-Abina S., De Villartay J.P., Charneau P., et al. Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients. Mol Ther 2008, 16:396-403.
32. Brown L., Xu-Bayford J., Allwood Z., Slatter M., Cant A., Davies E.G., Veys P., Gennery A.R., Gaspar H.B. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood 2011, 117:3243-3246.
33. Stein S., Ott M.G., Schultze-Strasser S., Jauch A., Burwinkel B., Kinner A., Schmidt M., Kramer A., Schwable J., Glimm H., 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.
34. Avedillo Diez I., Zychlinski D., Coci E.G., Galla M., Modlich U., Dewey R.A., Schwarzer A., Maetzig T., Mpofu N., Jaeckel E., et al. Development of novel efficient SIN vectors with improved safety features for Wiskott-Aldrich syndrome stem cell based gene therapy. Mol Pharm 2011, 8:1525-1537.