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Newborn Screening for Severe Combined Immunodeficiency. Curr Allergy Asthma Rep 2018 05 10;18(6):34

Date

05/12/2018

Pubmed ID

29749587

DOI

10.1007/s11882-018-0783-9

Scopus ID

2-s2.0-85046744871   22 Citations

Abstract

PURPOSE OF REVIEW: 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.

RECENT FINDINGS: 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 na??ve T cells. TRECs are a biomarker of newly formed, na??ve T cells that have recently left the thymus. Consequently, the TREC assay identifies infants with SCID and other causes of severe T cell lymphopenia.

Author List

Routes J, Verbsky J

Author

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




MESH terms used to index this publication - Major topics in bold

Humans
Infant
Infant, Newborn
Neonatal Screening
Severe Combined Immunodeficiency