Division of Allergy, Immunology and Bone Marrow Transplantation, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143-0519, USA.
J Allergy Clin Immunol. 2012 Mar;129(3):607-16. doi: 10.1016/j.jaci.2012.01.032. Epub 2012 Jan 29.
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 before 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 T-cell receptor excision circles (TRECs), a DNA biomarker of normal T-cell development, has proved successful. TREC numbers can be measured in DNA isolated from the dried bloodspots 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.
最严重的原发性免疫缺陷病，即严重联合免疫缺陷病（SCID），如果不通过异基因造血细胞移植、酶替代或基因治疗为受影响的婴儿提供适应性免疫系统，在婴儿期就会致命。然而，大多数患有 SCID 的婴儿在感染之前没有家族史或任何临床线索，这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对象。在考虑的几种 SCID 筛查方法中，检测 T 细胞受体切除环（TRECs），一种正常 T 细胞发育的 DNA 生物标志物，已被证明是成功的。可以从已常规收集用于新生儿筛查的干血斑中分离出的 DNA 中测量 TREC 数量。因此，可以识别出 TREC 数量低或不存在的婴儿，并进行确认性检测和及时干预。目前，一些州正在对新生儿进行 TREC 检测，这表明将此项检测添加到新生儿筛查项目中可以成功地纳入州公共卫生计划。
