Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

被引：68
作者：
van der Burg, Mirjam [1 ]
Mahlaoui, Nizar [2 ]
Gaspar, Hubert Bobby [3 ]
Pai, Sung-Yun [4 ,5 ,6 ]
机构：
[1] Leiden Univ, Lab Immunol, Med Ctr, Dept Pediat, Leiden, Netherlands
[2] Hop Univ Necker Enfants Malad, AP HP, Ctr Reference Deficits Immunitaires Hereditaires, Paris, France
[3] UCL Great Ormond St Inst Child Hlth, Mol & Cellular Immunol, London, England
[4] Boston Childrens Hosp, Dept Pediat, Div Hematol Oncol, Boston, MA 02115 USA
[5] Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA
[6] Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA
来源：
FRONTIERS IN PEDIATRICS | 2019年 / 7卷
关键词：
severe combined immunodeficiency; T lymphocytes; newborn screening; allogeneic hematopoietic stem cell transplantation; public health; TRANSPLANTATION; SURVIVAL; DISEASES; IDENTIFICATION; HISTORY;
D O I：
10.3389/fped.2019.00373
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with allogeneic hematopoietic stem cell transplantation. Universal newborn screening for SCID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC screening, and continued challenges to implementation.
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页数：5
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