Neonatal screening for severe combined immunodeficiency.
Neonatal screening for severe combined immunodeficiency.
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DOI：
10.1097/mop.0b013e32834cb9b0
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发表时间：
2011-12
影响因子：
3.6
通讯作者：
Puck JM
中科院分区：
文献类型：
--
作者：
Puck JM
在五个州已经建立了以人口为基础的新生儿严重联合免疫缺陷（SCID）和相关疾病筛查，还有几个州计划将这种检测添加到新生儿筛查小组中。这篇综述总结了迄今为止SCID筛查项目的原理、发展和实施，并强调了当前和未来的挑战。T细胞受体切除环（TREC）在试点州测试新生儿的早期结果表明，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。TREC测试具有临床有效性，并且如所预测的，TREC是胸腺中T细胞淋巴细胞产生不良或导致T细胞淋巴细胞减少症的淋巴细胞损失增加的极好生物标志物。及时发现了具有典型SCID基因型和其他情况的各种病例，并转诊进行适当的早期治疗。早期发现原发性免疫缺陷被认为是重要的，以避免感染并发症，损害的结果。作为综合公共卫生计划的一部分，对所有新生儿进行TREC测试的常规筛查，可以实现SCID和其他T细胞淋巴细胞减少症疾病的症状前诊断，从而可以进行及时有效的治疗，并更好地了解这些疾病的谱以及如何管理它们。
Population-based newborn screening for severe combined immunodeficiency (SCID) and related disorders has been instituted in five states, with several more planning to add this testing to their newborn screening panels. This review summarizes the rationale, development, and implementation of SCID screening programs to date and highlights current and future challenges. Early results of T-cell receptor excision circle (TREC) testing newborns in pilot states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. The TREC test has clinical validity and TRECs, as predicted, are an excellent biomarker of poor T-cell lymphocyte production in the thymus or increased lymphocyte loss resulting in T-cell lymphopenia. A variety of cases with typical SCID genotypes and other conditions have been detected in a timely manner and referred for appropriate early treatment. Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. Routine screening of all newborns with the TREC test, implemented as part of an integrated public health program, can achieve pre-symptomatic diagnosis of SCID and other disorders with T-cell lymphopenia, allowing prompt and effective treatment and leading to a better understanding of the spectrum of these disorders and how to manage them.