Newborn Screening for Severe Combined Immunodeficiency

Mohammed Taki; Tayaba Miah; Elizabeth Secord

doi:10.1016/j.pcl.2019.06.007

Newborn Screening for Severe Combined Immunodeficiency

Pediatr Clin North Am. 2019 Oct;66(5):913-923. doi: 10.1016/j.pcl.2019.06.007.

Authors

Mohammed Taki¹, Tayaba Miah¹, Elizabeth Secord²

Affiliations

¹ Department of Pediatrics, Children's Hospital of Michigan, 3901 Beaubien Street, Detroit, MI 48201, USA.
² Department of Allergy and Immunology, Children's Hospital of Michigan, 3901 Beaubien Street, Detroit, MI 48201, USA. Electronic address: Ae8701@wayne.edu.

PMID: 31466681
DOI: 10.1016/j.pcl.2019.06.007

Abstract

The T-cell receptor excision circle (TREC) assay is an effective screening tool for severe combined immunodeficiency (SCID). The TREC assay was designed to detect typical SCID and leaky SCID, but any condition causing low naïve T-cell counts will also be detected. Newborn screening for SCID using the TREC assay has proven itself to be highly sensitive and cost-efficient. This review covers the history of SCID newborn screening, elaborates on the SCID subtypes and TREC assay limitations, and discusses diagnostic and management considerations for infants with a positive screen.

Keywords: Newborn screening (NBS); Severe combined immunodeficiency (SCID); T-cell lymphopenia; T-cell receptor excision circle (tREC).

Publication types

Review

MeSH terms

Humans
Infant, Newborn
Neonatal Screening*
Severe Combined Immunodeficiency / diagnosis*
Severe Combined Immunodeficiency / immunology