Bone marrow transplantation for cartilage-hair-hypoplasia
Bone marrow transplantation for cartilage-hair-hypoplasia
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DOI：
10.1038/sj.bmt.1705520
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发表时间：
2006-12-01
影响因子：
4.8
通讯作者：
Roifman, C. M.
中科院分区：
文献类型：
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作者：
Guggenheim, R.;Somech, R.;Roifman, C. M.
软骨毛发发育不全（CHH）与严重联合免疫缺陷（SCID）的关联已经被发现超过三十年。骨髓移植（BMT）仍然是唯一可能治愈SCID的有效治疗方法。令人惊讶的是，关于CHH中BMT的经验报道很少。我们在这里报告的生存和长期重建免疫骨髓移植后，在3例CHH患者。无论是否使用相关人类白细胞抗原匹配或无关匹配的供体作为BMT的来源，所有患者在BMT后5-20年均存活且健康。大多数供体来源的细胞的移植似乎稳健。免疫系统的重复评价显示细胞和体液免疫正常。我们的研究结果应该鼓励使用骨髓移植的CHH患者有深刻的免疫缺陷。
The association of cartilage hair hypoplasia (CHH) with severe combined immunodeficiency (SCID) has been known for more than three decades. Bone marrow transplantation (BMT) remains the only effective treatment that might cure SCID. Surprisingly little has been reported on the experience with BMT in CHH. We report here survival and long-term reconstitution of immunity after BMT in three patients with CHH. Regardless of whether a related human leukocyte antigen-matched or unrelated matched donors were used as the source of BMT, all patients are alive and well 5-20 years after BMT. Engraftment appears robust with most cells of donors origin. Repeated evaluation of the immune system showed normal cellular and humoral immunity. Our results should encourage the use of BMT in patients with CHH who have profound immunodeficiency.