Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
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DOI：
10.1016/j.jaci.2012.01.032
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发表时间：
2012-03
影响因子：
14.2
通讯作者：
Puck, Jennifer M.
中科院分区：
文献类型：
--
作者：
Puck, Jennifer M.
关键词：
最严重的原发性免疫缺陷疾病，严重联合免疫缺陷（SCID），是致命的婴儿期，除非受影响的婴儿提供了一个适应性免疫系统，通过异基因造血细胞移植，酶替代或基因治疗。然而，大多数患有SCID的婴儿在感染发作之前缺乏家族史或任何临床线索，使得这种严重但可治疗的疾病成为基于人群的新生儿筛查的候选者。在考虑用于SCID筛查的几种方法中，测试正常T细胞发育的DNA生物标志物，T细胞受体切除环（TRECs）已被证明是成功的。TREC数量可以在从已经常规收集用于新生儿筛查的干血斑分离的DNA中测量。因此，可以识别出TRECs水平低或不存在的婴儿，并将其转介进行确证性检测和及时干预。新生儿的TREC检测现在正在几个州进行，这表明新生儿筛查小组的这一补充可以成功地纳入州公共卫生计划。
The most profound primary immunodeficiency disease, severe combined immunodeficiency (SCID), is fatal in infancy unless affected infants are provided with an adaptive immune system through allogeneic hematopoietic cell transplantation, enzyme replacement or gene therapy. However, most infants with SCID lack a family history or any clinical clues prior to the onset of infections, making this serious, but treatable disease a candidate for population based newborn screening. Of several approaches considered for SCID screening, testing for the DNA biomarker of normal T cell development, T cell receptor excision circles (TRECs), has proven successful. TREC numbers can be measured in DNA isolated from the dried blood spots already routinely collected for newborn screening. Infants with low or absent TRECs can thus be identified and referred for confirmatory testing and prompt intervention. TREC testing of newborns is now being performed in several states, indicating that this addition to the newborn screening panel can be successfully integrated into state public health programs.
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影响因子：
14.2
作者：
Fischer, Alain;Hacein-Bey-Abina, Salima;Cavazzana-Calvo, Marina
通讯作者：
Cavazzana-Calvo, Marina
影响因子：
14.2
作者：
Chan, K;Puck, JM
通讯作者：
Puck, JM
影响因子：
20.3
作者：
Cavazzana-Calvo, Marina;Carlier, Frederique;Hacein-Bey-Abina, Salima
通讯作者：
Hacein-Bey-Abina, Salima
影响因子：
9.3
作者：
Gerstel-Thompson, Jacalyn L.;Wilkey, Jonathan F.;Comeau, Anne Marie
通讯作者：
Comeau, Anne Marie
影响因子：
15.9
作者：
Goldman, FD;Ballas, ZK;Taylor, N
通讯作者：
Taylor, N