“氣泡男孩癥”的病因是X染色體發(fā)生了嚴(yán)重的化合免疫缺陷,，患者只能在完全無(wú)菌的條件下生存,。這種疾病是由于基因突變干擾了淋巴細(xì)胞的正常數(shù)量,，只有男孩會(huì)遺傳該基因，患者沒(méi)有淋巴細(xì)胞,，所以無(wú)法抵抗傳染病,，只能生活在類(lèi)似氣泡那樣被完全隔離起來(lái)的無(wú)菌環(huán)境里，即便對(duì)普通人而言并不嚴(yán)重的感染,，對(duì)患有此病的人來(lái)說(shuō)也可能是致命的,。據(jù)統(tǒng)計(jì)，在5萬(wàn)～10萬(wàn)個(gè)新生兒中,，至少有一個(gè)嬰兒患此病,。
據(jù)美國(guó)權(quán)威期刊《新英格蘭醫(yī)學(xué)雜志》7月22日?qǐng)?bào)道，法國(guó)巴黎內(nèi)克爾兒童醫(yī)院的研究人員從1999年開(kāi)始,，對(duì)平均7個(gè)月大的9名男嬰實(shí)施基因療法,，在9年后，1名男孩因患白血病死去,，其他8名都健康地活著,。今年，這8名男孩的淋巴細(xì)胞水平都達(dá)到了正常,，體重和身高并未停止增長(zhǎng),，甚至可以像其他正常的孩子一樣去上學(xué)。不過(guò),，這種療法的最大副作用就是可能導(dǎo)致白血病,，幸存8人中有3人患有白血病。
美國(guó)紐約羅切斯特大學(xué)神經(jīng)病學(xué)副教授威廉·鮑爾說(shuō),，這已經(jīng)是非常了不起的進(jìn)步了,。此前治療“氣泡男孩癥”的方法只有骨髓移植，但這需要相匹配的捐贈(zèng)者,，而且會(huì)導(dǎo)致嚴(yán)重的并發(fā)癥,。從1999年到2002年間，醫(yī)學(xué)專(zhuān)家在修正基因的病毒載體方面取得了重大進(jìn)展,，接受基因治療的9個(gè)男嬰由于沒(méi)有匹配的骨髓捐贈(zèng)者,，只能將自身骨髓中的一種干細(xì)胞取出，注入修正基因后再注射到患者體內(nèi),，結(jié)果他們當(dāng)中沒(méi)有一個(gè)出現(xiàn)嚴(yán)重反應(yīng),。鮑爾副教授說(shuō)，這些成果證實(shí),，基因療法在治療“氣泡男孩癥”方面已取得了臨床上的成功,。（生物谷Bioon.com）
生物谷推薦原文出處：
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.)
