Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay. Front Immunol 2017;8:1470

Date

11/24/2017

Pubmed ID

29167668

Pubmed Central ID

PMC5682299

DOI

10.3389/fimmu.2017.01470

Scopus ID

2-s2.0-85034107489   29 Citations

Abstract

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.

Author List

Thakar MS, Hintermeyer MK, Gries MG, Routes JM, Verbsky JW

Author

James Verbsky MD, PhD Professor in the Pediatrics department at Medical College of Wisconsin