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首页> 外文期刊>International Journal of Neonatal Screening >Newborn Screening for Severe Combined Immunodeficiency in Taiwan
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Newborn Screening for Severe Combined Immunodeficiency in Taiwan

机译：台湾严重合并免疫缺陷的新生儿筛查

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摘要

A study of newborn screening for severe combined immunodeficiency (SCID) by detecting the T-cell receptor excision circle (TRECs) copy number in dried blood spots (DBSs) collected from newborns 3 days of age began in 2010 in Taiwan, and SCID screening was subsequently implemented country-wide in 2012. A total of 920,398 newborns were screened during a period of 78 months. Of these, 175 newborns (0.02%) were requested to undergo an immune function survey, and 136 cases (1 in 6768 newborns) were ultimately diagnosed as having T cell lymphopenia. The screening detected seven cases of typical SCID, with an incidence of 1 in 131,485 newborns (95% confidence interval, 1/63,693~1/271,434). Hematopoietic stem cell transplantation was performed in six patients before overt infection occurred, and the survival rate was 100%. The screening also detected eight cases of SCID variants and 20 cases of 22q11.2 deletion syndrome. Other etiologies of T lymphopenia were identified, and those newborns were evaluated and managed according to their immunological status. Owing to the introduction of newborn screening by measuring the TREC copy number, early administration of treatments became possible for newborns with conditions that put them at risk of primary or secondary immunodeficiency.
机译：台湾于2010年开始对3天大的新生儿的干血斑（DBS）中的T细胞受体切除环（TRECs）拷贝数进行检测，从而对新生儿进行严重联合免疫缺陷症（SCID）筛查。随后在2012年在全国范围内实施。在78个月的时间里，共对920,398名新生儿进行了筛查。其中，要求175例新生儿（0.02％）进行免疫功能检查，并最终诊断出136例（6768例新生儿中的1例）有T细胞淋巴细胞减少症。筛查发现7例典型的SCID病例，在131,485名新生儿中发生1例（95％置信区间，1 / 63,693〜1 / 271,434）。发生明显感染之前，有6例患者进行了造血干细胞移植，存活率为100％。筛查还发现了8例SCID变异病例和20例22q11.2缺失综合征。确定了T淋巴细胞减少的其他病因，并根据其免疫状况对这些新生儿进行了评估和处理。由于通过测量TREC拷贝数进行了新生儿筛查，因此对于有可能患有原发性或继发性免疫缺陷风险的新生儿，可以早期给予治疗。

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