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

Frontiers in Immunology

Mary K. Hintermeyer¹  John M. Routes²  James W. Verbsky³  Miranda G. Gries⁴  Monica S. Thakar⁴ 

[1] Children’s Hospital of Wisconsin, Milwaukee, WI, United States;Department of Pediatrics, Division of Allergy and Clinical Immunology, Medical College of Wisconsin, Milwaukee, WI, United States;Department of Pediatrics, Division of Rheumatology, Medical College of Wisconsin, Milwaukee, WI, United States;Department of Pediatrics, Divisions of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI, United States;

关键词: severe combined immunodeficiency;    T cell receptor excision circles;    newborn screening;    bone marrow transplantation;    antibiotic prophylaxis;   

DOI  :  10.3389/fimmu.2017.01470

来源: DOAJ

【 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.

【 授权许可】

Unknown