“气泡男孩症”的病因是X染色体发生了严重的化合免疫缺陷，患者只能在完全无菌的条件下生存。这种疾病是由于基因突变干扰了淋巴细胞的正常数量，只有男孩会遗传该基因，患者没有淋巴细胞，所以无法抵抗传染病，只能生活在类似气泡那样被完全隔离起来的无菌环境里，即便对普通人而言并不严重的感染，对患有此病的人来说也可能是致命的。据统计，在5万～10万个新生儿中，至少有一个婴儿患此病。
据美国权威期刊《新英格兰医学杂志》7月22日报道，法国巴黎内克尔儿童医院的研究人员从1999年开始，对平均7个月大的9名男婴实施基因疗法，在9年后，1名男孩因患白血病死去，其他8名都健康地活着。今年，这8名男孩的淋巴细胞水平都达到了正常，体重和身高并未停止增长，甚至可以像其他正常的孩子一样去上学。不过，这种疗法的最大副作用就是可能导致白血病，幸存8人中有3人患有白血病。
美国纽约罗切斯特大学神经病学副教授威廉鲍尔说，这已经是非常了不起的进步了。此前治疗“气泡男孩症”的方法只有骨髓移植，但这需要相匹配的捐赠者，而且会导致严重的并发症。从1999年到2002年间，医学专家在修正基因的病毒载体方面取得了重大进展，接受基因治疗的9个男婴由于没有匹配的骨髓捐赠者，只能将自身骨髓中的一种干细胞取出，注入修正基因后再注射到患者体内，结果他们当中没有一个出现严重反应。鲍尔副教授说，这些成果证实，基因疗法在治疗“气泡男孩症”方面已取得了临床上的成功。
生物谷推荐原文出处：
N Engl J Med 2010; 363:355-364
Efficacy of Gene Therapy for X-Linked Severe Combined Immunodeficiency
Salima Hacein-Bey-Abina, Pharm.D., Ph.D., Julia Hauer, M.D., Annick Lim, M.Sci., Capucine Picard, M.D., Ph.D., Gary P. Wang, M.D., Ph.D., Charles C. Berry, Ph.D., Chantal Martinache, M.Sci., Frédéric Rieux-Laucat, Ph.D., Sylvain Latour, Ph.D., Bernd H. Belohradsky, M.D., Lily Leiva, Ph.D., Ricardo Sorensen, M.D., Marianne Debré, M.D., Jean Laurent Casanova, M.D., Ph.D., Stephane Blanche, M.D., Anne Durandy, M.D., Ph.D., Frederic D. Bushman, Ph.D., Alain Fischer, M.D., Ph.D. and Marina Cavazzana-Calvo, M.D., Ph.D.
The outcomes of gene therapy to correct congenital immunodeficiencies are unknown. We reviewed long-term outcomes after gene therapy in nine patients with X-linked severe combined immunodeficiency (SCID-X1), which is characterized by the absence of the cytokine receptor common γ chain.
The outcomes of gene therapy to correct congenital immunodeficiencies are unknown. We reviewed long-term outcomes after gene therapy in nine patients with X-linked severe combined immunodeficiency (SCID-X1), which is characterized by the absence of the cytokine receptor common γ chain.
Eight patients were alive after a median follow-up period of 9 years (range, 8 to 11). Gene therapy was initially successful at correcting immune dysfunction in eight of the nine patients. However, acute leukemia developed in four patients, and one died. Transduced T cells were detected for up to 10.7 years after gene therapy. Seven patients, including the three survivors of leukemia, had sustained immune reconstitution; three patients required immunoglobulin-replacement therapy. Sustained thymopoiesis was established by the persistent presence of naive T cells, even after chemotherapy in three patients. The T-cell?receptor repertoire was diverse in all patients. Transduced B cells were not detected. Correction of the immunodeficiency improved the patients' health.
After nearly 10 years of follow-up, gene therapy was shown to have corrected the immunodeficiency associated with SCID-X1. Gene therapy may be an option for patients who do not have an HLA-identical donor for hematopoietic stem-cell transplantation and for whom the risks are deemed acceptable. This treatment is associated with a risk of acute leukemia. (Funded by INSERM and others.)
