Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Sci Transl Med. 2011 Aug 24;3(97):97ps36. doi: 10.1126/scitranslmed.3002594.
Hematopoietic stem cell (HSC) transplantation may be curative for severe combined immunodeficiency (SCID). However, for a majority of infants with SCID a suitable donor is not available, and even with a matched donor, allogeneic HSC transplantation itself carries potential complications such as graft-versus-host disease as well as side effects from myelosuppressive chemotherapy. In the past decade, substantial advances have been made in the transplantation of gene-modified autologous HSCs, especially for two forms of SCID: X-linked SCID (SCID-X1) and adenosine deaminase (ADA)-deficient SCID. Two new reports in this issue of Science Translational Medicine add to the accumulating findings from gene therapy trials in Italy, France, and the United States that show clinical benefits of this alternative treatment.
造血干细胞 (HSC) 移植可能对严重联合免疫缺陷症 (SCID) 具有治愈作用。然而，对于大多数患有 SCID 的婴儿来说，没有合适的供体，即使有匹配的供体，异基因 HSC 移植本身也会带来潜在的并发症，如移植物抗宿主病以及骨髓抑制化疗的副作用。在过去的十年中，基因修饰的自体 HSC 移植取得了重大进展，特别是针对两种形式的 SCID：X 连锁 SCID (SCID-X1) 和腺苷脱氨酶 (ADA) 缺陷型 SCID。本期《科学转化医学》中的两项新报告增加了来自意大利、法国和美国的基因治疗试验的累积发现，这些发现表明这种替代治疗具有临床益处。
