Newborn screening for SCID: lessons learned

Becky J Buelow; James W Verbsky; John M Routes

doi:10.1080/17474086.2016.1180243

Newborn screening for SCID: lessons learned

Expert Rev Hematol. 2016 Jun;9(6):579-84. doi: 10.1080/17474086.2016.1180243. Epub 2016 May 9.

Authors

Becky J Buelow¹, James W Verbsky^{1

2}, John M Routes^{1

2}

Affiliations

¹ a Department of Pediatrics , Medical College of Wisconsin , Milwaukee , WI , USA.
² b Department of Microbiology and Molecular Genetics , Medical College of Wisconsin and the Children's Research Institute, Medical College of Wisconsin , Milwaukee , WI , USA.

PMID: 27139719
DOI: 10.1080/17474086.2016.1180243

Abstract

Introduction: Newborn screening (NBS) for Severe combined immunodeficiency (SCID)/severe T cell lymphopenia (sTCL) is being increasingly used worldwide.

Areas covered: In this manuscript we will discuss the following: 1) The rationale for screening newborns for SCID/sTCL; 2) The scientific basis for the use of the T cell receptor excision circle (TREC) assay in screening newborns for SCID/sTCL; 3) The published outcomes of current NBS programs. Expert commentary: 4) Some of the ethical dilemmas that occur when screening newborns for SCID. Finally, we will discuss the future directions for expanding NBS to include other primary immunodeficiencies.

Keywords: Newborn screening (NBS); T cell lymphopenia (TCL); T cell receptor excision circle (TREC); review; severe combined immunodeficiency (SCID).

Publication types

Review

MeSH terms

Genetic Testing / ethics
Genetic Testing / methods
Humans
Infant, Newborn
Mass Screening
Neonatal Screening* / ethics
Neonatal Screening* / methods
Receptors, Antigen, T-Cell / genetics
Severe Combined Immunodeficiency / diagnosis*
Severe Combined Immunodeficiency / epidemiology
Severe Combined Immunodeficiency / etiology

Substances

Receptors, Antigen, T-Cell