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首页> 外文期刊>International Journal of Neonatal Screening >Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay
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Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay

机译：严重合并免疫缺陷的新生儿筛查-TREC分析的历史

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摘要

Infants born with T cell lymphopenias, especially severe combined immunodeficiency (SCID) are at risk for serious, often fatal infections without intervention within the first year or two of life. The majority of these disorders can be detected through the use of the T cell recombination excision circle assay (TREC assay.) The TREC assay detects the presence of non-replicating, episomal DNA that is formed during T cell development. This assay initially developed to measure thymic output during aging and HIV infection, has undergone modifications for the purpose of newborn screening (NBS) for SCID. To meet the requirements for inclusion on NBS panels, the assay needed to utilize blood from dried blood spots on NBS cards, and be both sensitive and specific, avoiding the costs of false positives. Currently, the assay relies upon real time, quantitative PCR (RT-qPCR) to detect TRECs in punches taken from dried blood spots. This review seeks to highlight some of the early work leading up to the initial implementation of the TREC assay for SCID detection, and the subsequent revisions made to optimize the assay.
机译：患有T细胞淋巴细胞减少症（特别是严重的合并免疫缺陷病（SCID））的婴儿在出生后一两年内，如果没有干预，则有发生严重，经常致命的感染的风险。这些疾病中的大多数都可以通过使用T细胞重组切除环测定法（TREC assay）进行检测。TREC测定法检测在T细胞发育过程中形成的非复制型游离DNA的存在。最初开发该方法以测量衰老和HIV感染期间的胸腺输出量，现已进行了修改，以用于SCID的新生儿筛查（NBS）。为了满足NBS面板上包含的要求，该测定需要利用NBS卡上干血斑中的血液，并且既灵敏又特异，从而避免了假阳性的成本。当前，该测定依靠实时定量PCR（RT-qPCR）来检测从干血斑中取出的打孔剂中的TREC。这篇综述旨在强调一些早期工作，这些工作导致TREC检测法首次用于SCID检测，并进行了后续修订以优化检测方法。

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