The case for newborn screening for severe combined immunodeficiency and related disorders.
The case for newborn screening for severe combined immunodeficiency and related disorders.
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DOI：
10.1111/j.1749-6632.2011.06346.x
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发表时间：
2011-12
影响因子：
5.2
通讯作者：
Puck JM
中科院分区：
文献类型：
--
作者：
Puck JM
早期发现原发性免疫缺陷被认为是避免影响预后的感染性并发症的重要因素。特别是，严重联合免疫缺陷（SCID）在婴儿期是致命的，除非受影响的婴儿能够在破坏性感染发作之前被诊断出来，并通过同种异体造血细胞移植、酶替代或基因治疗提供免疫系统。正常T细胞发育的生物标志物，T细胞受体切除圈（TRECs），可以在从新生儿筛查常规获得的干血斑中分离的DNA中测量；因此，被确定为缺乏trec的婴儿可以接受确证性检测和及时干预。在五个州对新生儿进行TREC测试的早期结果表明，这种新生儿筛查面板的附加功能可以成功地纳入州公共卫生计划。多种典型SCID基因型和其他T淋巴细胞减少的病例被及时发现，并转介进行适当的早期治疗。
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.
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