Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow
Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow
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DOI：
10.1056/nejm199612123352404
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发表时间：
1996-12-12
影响因子：
158.5
通讯作者：
Zanjani, ED
中科院分区：
文献类型：
--
作者：
Flake, AW;Roncarolo, MG;Zanjani, ED
严重联合免疫缺陷是一种先天性综合征，由各种遗传异常引起，可导致感染易感性、发育不良、淋巴发育不全、T淋巴细胞水平极低和低丙种球蛋白血症。1，2未经治疗，该疾病通常在生命的第一年内致命。我们报告通过子宫内移植富含造血祖细胞的父亲骨髓成功治疗了一个患有X连锁变异型严重联合免疫缺陷的胎儿。病例报告患者在撰写本文时11个月大，是一名28岁妇女的第二个儿子，已知该妇女携带在...
Severe combined immunodeficiency is a congenital syndrome due to various genetic abnormalities that cause susceptibility to infection, failure to thrive, lymphoid hypoplasia, very low levels of T lymphocytes, and hypogammaglobulinemia.1,2Untreated, the disorder is usually fatal within the first year of life. We report the successful treatment of a fetus with the X-linked variant of severe combined immunodeficiency by the in utero transplantation of paternal bone marrow that was enriched with hematopoietic cell progenitors.Case ReportThe patient, 11 months old at this writing, is the second son of a 28-year-old woman known to carry a mutation found in . . .