A Practical Approach to Newborn Screening for Severe Combined immunodeficiency Using the T Cell Receptor excision Circle Assay

被引：30

作者：

Thakar, Monica S. ^{[1
]}

Hintermeyer, Mary K. ^{[2
]}

Gries, Miranda G. ^{[1
]}

Routes, John M. ^{[3
]}

Verbsky, James W. ^{[4
]}

机构：

[1] Med Coll Wisconsin, Dept Pediat, Div Hematol Oncol, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA

[2] Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA

[3] Med Coll Wisconsin, Dept Pediat, Div Allergy & Clin Immunol, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA

[4] Med Coll Wisconsin, Dept Pediat, Div Rheumatol, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA

来源：

FRONTIERS IN IMMUNOLOGY | 2017年 / 8卷

关键词：

severe combined immunodeficiency; T cell receptor excision circles; newborn screening; bone marrow transplantation; antibiotic prophylaxis; 1ST; 2; YEARS; LYMPHOPENIA; TRANSPLANTATION; IDENTIFICATION; EXPERIENCE; DEFICIENCY; DISEASES; TREC;

D O I：

10.3389/fimmu.2017.01470

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Severe combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is being implemented by all states in 2017. It has been established that NBS using the TREC assay is extremely sensitive to detect SCID in the newborn period. Some controversies remain regarding how screening positives are handled by individual states, including when to perform confirmatory flow cytometry, what is the necessary diagnostic workup of patients, what infection prophylaxis measures should be taken, and when hematopoietic stem cell transplantation should occur. In addition, the TREC can also assay detect infants with T cell lymphopenia who are not severe enough to be considered SCID; management of these infants is also evolving.

引用

页数：6

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