Newborn screening for SCID: where are we now?

被引：11

作者：

Buelow, Becky J. ^{[1
]}

Routes, John M. ^{[1
,2
,3
]}

Verbsky, James W. ^{[1
,2
,3
]}

机构：

[1] Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA

[2] Med Coll Wisconsin, Dept Microbiol & Mol Genet, Milwaukee, WI 53226 USA

[3] Med Coll Wisconsin, Childrens Res Inst, Milwaukee, WI 53226 USA

来源：

EXPERT REVIEW OF CLINICAL IMMUNOLOGY | 2014年 / 10卷 / 12期

关键词：

newborn screening; severe combined immunodeficiency; T-cell lymphopenia; TREC; SEVERE COMBINED-IMMUNODEFICIENCY; SEQUENCING-BASED DISCOVERY; EXCISION CIRCLES; IDENTIFICATION; CLASSIFICATION; DEFICIENCY; EXPERIENCE; DELETION; DISEASES;

D O I：

10.1586/1744666X.2014.980816

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Newborn screening (NBS) for severe T-cell lymphopenia/severe combined immunodeficiency using the T-cell receptor excision circle assay continues to expand in the USA and worldwide. Here, we will review why severe combined immunodeficiency is an excellent case for NBS, the outcomes of the first 6 years of screening, and dilemmas surrounding screening and management of infants detected by NBS. We will also discuss the future of NBS for primary immunodeficiencies.

引用

页码：1649 / 1657

页数：9

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