Newborn Screening for Severe Combined Immunodeficiency

Current Allergy and Asthma Reports
John M Routes, James Verbsky

Abstract

This review provides a brief history of newborn screening (NBS) for severe combined immunodeficiency (SCID), discusses the theoretical basis for the T cell receptor excision circle (TREC) assay, highlights the results of recent studies using the TREC, and provides practical advice for the evaluation of infants with an abnormal TREC assay. Currently, all but three states perform NBS for SCID in the USA. NBS using the TREC assay is highly sensitive in identifying infants with SCID and may also identify infants with T cell lymphopenia due to other causes such as congenital syndromes, multiple congenital anamolies, and some combined immunodeficiencies. Regardless of the genetic etiology, all forms of SCID are characterized by a severe deficiency of naïve T cells. TRECs are a biomarker of newly formed, naïve T cells that have recently left the thymus. Consequently, the TREC assay identifies infants with SCID and other causes of severe T cell lymphopenia.

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Citations

Sep 7, 2019·Current Opinion in Allergy and Clinical Immunology·Meera Patrawala, Lisa Kobrynski
Jul 2, 2019·NeoReviews·Amy E O'Connell
Oct 10, 2018·Current Opinion in Pediatrics·Joyce E YuYesim Yilmaz Demirdag
Sep 24, 2019·Frontiers in Immunology·Ruud H J VerstegenMenno C van Zelm
Oct 18, 2019·Frontiers in Pediatrics·Mirjam van der BurgSung-Yun Pai
Dec 31, 2019·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Giulia RemaschiCarlo Dani
Dec 14, 2018·Pediatric Annals·C Lydia Wraight
Oct 19, 2020·Journal of Clinical Immunology·Maartje BlomUNKNOWN SONNET-Study Group
Jul 7, 2019·The Journal of Pediatrics·Brooke T DaveyOlga H Toro-Salazar
Sep 30, 2019·Immunology and Allergy Clinics of North America·Hey J ChongJennifer Heimall
Sep 20, 2021·The Journal of Allergy and Clinical Immunology·Maartje BlomMirjam van der Burg

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