A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay. Front Immunol 2017;8:1470
Date
11/24/2017Pubmed ID
29167668Pubmed Central ID
PMC5682299DOI
10.3389/fimmu.2017.01470Scopus ID
2-s2.0-85034107489 (requires institutional sign-in at Scopus site) 44 CitationsAbstract
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 JWAuthors
John M. Routes MD Chief, Professor in the Pediatrics department at Medical College of WisconsinJames Verbsky MD, PhD Professor in the Pediatrics department at Medical College of Wisconsin
