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首页> 外文期刊>International Journal of Neonatal Screening >Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future
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Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future

机译：原发性免疫缺陷疾病的新生儿筛查：过去，现在和未来

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摘要

Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to rise. Newborn screening for PID has been established in many countries, with the majority of centers using a PCR-based T cell receptor excision circle (TREC) assay to screen for severe combined immunodeficiency (SCID) and other forms of T cell lymphopenia. Multiplexed screening including quantitation of kappa-recombining exclusion circles (KREC) has also been described, offering advantages over TREC screening alone. Screening technologies are also expanding to include protein-based assays to identify complement deficiencies and granulocyte disorders. Given the rapid advances in genomic medicine, a potential future direction is the application of next-generation sequencing (NGS) technologies to screen infants for a panel of genetic mutations, which would enable identification of a wide range of diseases. However, several ethical and economic issues must be considered before moving towards this screening strategy.
机译：原发性免疫缺陷疾病（PID）是由先天性免疫错误引起的一组异质性疾病，受影响的儿童表现出严重，反复发作或异常感染。已鉴定出导致PID的300多种不同的遗传分子异常，并且这一数字还在继续上升。在许多国家/地区已经建立了新生儿PID筛查，大多数中心都使用基于PCR的T细胞受体切除环（TREC）分析来筛查严重的联合免疫缺陷症（SCID）和其他形式的T细胞淋巴细胞减少症。还已经描述了包括定量κ重组排斥环（KREC）在内的多重筛选，与单独的TREC筛选相比具有优势。筛查技术也正在扩展，以包括基于蛋白质的测定法，以鉴定补体缺陷和粒细胞异常。鉴于基因组医学的飞速发展，潜在的未来方向是应用下一代测序（NGS）技术来筛查婴儿的一系列基因突变，这将有助于鉴定多种疾病。但是，在采用此筛选策略之前，必须考虑几个道德和经济问题。

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