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美国新生儿严重联合免疫缺陷症筛查:经验教训。

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.

机构信息

Department of Pediatrics, University of California San Francisco, 555 Mission Bay Boulevard South, San Francisco, CA 94158, USA.

Department of Pediatrics, University of California San Francisco, Box 3118, 555 Mission Bay Boulevard South, Rm SC-252K, San Francisco, CA 94143, USA.

出版信息

Immunol Allergy Clin North Am. 2019 Feb;39(1):1-11. doi: 10.1016/j.iac.2018.08.002. Epub 2018 Nov 1.

DOI:10.1016/j.iac.2018.08.002
PMID:30466767
Abstract

In the United States, significant improvement in diagnosis and outcomes for children affected with severe combined immunodeficiency has followed institution of newborn screening using an assay to measure T-cell receptor excision circles in newborn dried blood spot specimens. Key to this outcome is the avoidance of infectious complications in infants with severe combined immunodeficiency.

摘要

在美国,通过使用检测新生儿干血斑标本中 T 细胞受体切除环的方法进行新生儿筛查,严重联合免疫缺陷患儿的诊断和预后得到了显著改善。这一结果的关键是避免严重联合免疫缺陷婴儿发生感染并发症。

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