Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Ann N Y Acad Sci. 2011 Dec;1246:108-17. doi: 10.1111/j.1749-6632.2011.06346.x.
Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating infections and provided with an immune system through allogenic hematopoietic cell transplantation, enzyme replacement, or gene therapy. A biomarker of normal T cell development, T cell receptor excision circles (TRECs), can be measured in DNA isolated from the dried blood spots routinely obtained for newborn screening; infants identified as lacking TRECs can thus receive confirmatory testing and prompt intervention. Early results of TREC testing of newborns in five states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. A variety of cases with typical SCID genotypes and other T lymphocytopenic conditions have been detected in a timely manner and referred for appropriate early treatment.
早期发现原发性免疫缺陷症对于避免危及生命的感染并发症至关重要。特别是严重联合免疫缺陷症（SCID），如果婴儿在毁灭性感染发作之前不能得到诊断，并通过同种异体造血细胞移植、酶替代或基因治疗来获得免疫系统，那么婴儿在婴儿期就会死亡。T 细胞受体切除环（TREC）是一种正常 T 细胞发育的生物标志物，可以从新生儿筛查常规采集的干血斑中提取的 DNA 中测量；因此，被鉴定为缺乏 TRECs 的婴儿可以接受确认性检测和及时干预。五个州的新生儿 TREC 检测的早期结果表明，这种新生儿筛查项目的增加可以成功地整合到州公共卫生计划中。及时发现了各种具有典型 SCID 基因型和其他 T 淋巴细胞减少症的病例，并进行了适当的早期治疗。
