Advances in gene therapy for inborn errors of immunity
LI Ting, SONG Hong-Mei
Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
Abstract Inborn errors of immunity (IEI) are a diverse group of disorders caused by defects in immune system structure or function, involving both innate and adaptive immunity. The 2022 update of the IEI classification includes 485 distinct disorders, categorized into ten major disease groups. With the rapid development of molecular biology, the specific pathogenesis of many IEI has been revealed, making gene therapy possible in preclinical and clinical research of this type of disease. This article reviews the advancements in gene therapy for IEI, aiming to increase awareness and understanding of these disorders.
Dogbey DM, Torres VES, Fajemisin E, et al. Technological advances in the use of viral and non-viral vectors for delivering genetic and non-genetic cargos for cancer therapy[J]. Drug Deliv Transl Res, 2023, 13(11): 2719-2738. PMID: 37301780. PMCID: PMC10257536. DOI: 10.1007/s13346-023-01362-3.
Kavanagh H, Dunne S, Martin DS, et al. A novel non-viral delivery method that enables efficient engineering of primary human T cells for ex vivo cell therapy applications[J]. Cytotherapy, 2021, 23(9): 852-860. PMID: 33941482. PMCID: PMC8386197. DOI: 10.1016/j.jcyt.2021.03.002.
Azarnezhad A, Samadian H, Jaymand M, et al. Toxicological profile of lipid-based nanostructures: are they considered as completely safe nanocarriers?[J]. Crit Rev Toxicol, 2020, 50(2): 148-176. PMID: 32053030. DOI: 10.1080/10408444.2020.1719974.
Gatti RA, Meuwissen HJ, Allen HD, et al. Immunological reconstitution of sex-linked lymphopenic immunological deficiency[J]. Lancet, 1968, 2(7583): 1366-9. PMID: 4177932. DOI: 10.1016/s0140-6736(68)92673-1.
Pai SY, Thrasher AJ. Gene therapy for X-linked severe combined immunodeficiency: historical outcomes and current status[J]. J Allergy Clin Immunol, 2020, 146(2): 258-261. PMID: 32561390. DOI: 10.1016/j.jaci.2020.05.055.
Aiuti A, Roncarolo MG, Naldini L. Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: paving the road for the next generation of advanced therapy medicinal products[J]. EMBO Mol Med, 2017, 9(6): 737-740. PMID: 28396566. PMCID: PMC5452047. DOI: 10.15252/emmm.201707573.
Garcia-Perez L, van Eggermond M, van Roon L, et al. Successful preclinical development of gene therapy for recombinase-activating gene-1-deficient SCID[J]. Mol Ther Methods Clin Dev, 2020, 17: 666-682. PMID: 32322605. PMCID: PMC7163047. DOI: 10.1016/j.omtm.2020.03.016.
Ghanim HY, Porteus MH. Gene regulation in inborn errors of immunity: implications for gene therapy design and efficacy[J]. Immunol Rev, 2024, 322(1): 157-177. PMID: 38233996. DOI: 10.1111/imr.13305.
Albert MH, Slatter MA, Gennery AR, et al. Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT inborn errors working party analysis[J]. Blood, 2022, 139(13): 2066-2079. PMID: 35100336. DOI: 10.1182/blood.2021014687.
Vieira RC, Pinho LG, Westerberg LS. Understanding immunoactinopathies: a decade of research on WAS gene defects[J]. Pediatr Allergy Immunol, 2023, 34(4): e13951. PMID: 37102395. DOI: 10.1111/pai.13951.
Braun CJ, Boztug K, Paruzynski A, et al. Gene therapy for Wiskott-Aldrich syndrome: long-term efficacy and genotoxicity[J]. Sci Transl Med, 2014, 6(227): 227ra33. PMID: 24622513. DOI: 10.1126/scitranslmed.3007280.
Laskowski TJ, Van Caeneghem Y, Pourebrahim R, et al. Gene correction of iPSCs from a Wiskott-Aldrich syndrome patient normalizes the lymphoid developmental and functional defects[J]. Stem Cell Reports, 2016, 7(2): 139-148. PMID: 27396937. PMCID: PMC4982969. DOI: 10.1016/j.stemcr.2016.06.003.
35 Kohn DB, Rao GR, Almarza E, et al. A phase 1/2 study of lentiviral-mediated ex-vivo gene therapy for pediatric patients with severe leukocyte adhesion deficiency-I (LAD-I): results from phase 1[J]. Blood, 2020, 136, Supplement 1: 15. DOI: 10.1182/blood-2020-142484.
Lee PY, Aksentijevich I, Zhou Q. Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2)[J]. Semin Immunopathol, 2022, 44(3): 269-280. PMID: 35178658. DOI: 10.1007/s00281-022-00918-8.
Lee PY, Davidson BA, Abraham RS, et al. Evaluation and management of deficiency of adenosine deaminase 2: an international consensus statement[J]. JAMA Netw Open, 2023, 6(5): e2315894. PMID: 37256629. DOI: 10.1001/jamanetworkopen.2023.15894.
Hashem H, Dimitrova D, Meyts I. Allogeneic hematopoietic cell transplantation for patients with deficiency of adenosine deaminase 2 (DADA2): approaches, obstacles and special considerations[J]. Front Immunol, 2022, 13: 932385. PMID: 35911698. PMCID: PMC9336546. DOI: 10.3389/fimmu.2022.932385.
