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首页> 外文期刊>Hong Kong Journal of Paediatrics >Unrelated Cord Blood Transplantation in a Pair of Siblings with X-linked Severe Combined Immunodeficiency: The Case for Early Diagnosis and Transplant
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Unrelated Cord Blood Transplantation in a Pair of Siblings with X-linked Severe Combined Immunodeficiency: The Case for Early Diagnosis and Transplant

机译：一对X连锁严重合并免疫缺陷的兄弟姐妹无关脐血移植：早期诊断和移植的情况。

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摘要

Haematopoietic stem cell transplantation is a curative therapy for severe combined immunodeficiency (SCID) after the first success forty years ago. We report a pair of Chinese siblings with X-linked SCID who had very different transplant outcomes. The elder brother was diagnosed late and had multiple infections before transplant. He developed severe graft-versus- host- disease and life-threatening haemolytic anaemia. He died from overwhelming septicaemia. The younger brother, who was diagnosed at birth and infection-free before transplant, underwent an uneventful transplant. Early transplant within the first 3 months of life results in over 90% disease-free survival. Newborn screening is now being pursued to achieve this goal.
机译：在40年前的首次成功之后，造血干细胞移植是一种治疗严重合并免疫缺陷病（SCID）的有效疗法。我们报道了一对X连锁SCID的中国同胞，他们的移植结果差异很大。哥哥被诊断得很晚，在移植之前感染了多种病毒。他患上了严重的移植物抗宿主病和危及生命的溶血性​​贫血。他死于压倒性败血症。这位在出生时被确诊为无感染且在移植前无感染的弟弟进行了一次平稳的移植。在生命的前三个月内进行早期移植可实现90％以上的无病生存期。现在正在寻求新生儿筛查以实现这一目标。

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