Newborn screening for SCID: where are we now?

Abstract

Newborn screening (NBS) for severe T-cell lymphopenia/severe combined immunodeficiency using the T-cell receptor excision circle assay continues to expand in the USA and worldwide. Here, we will review why severe combined immunodeficiency is an excellent case for NBS, the outcomes of the first 6 years of screening, and dilemmas surrounding screening and management of infants detected by NBS. We will also discuss the future of NBS for primary immunodeficiencies.

Keywords::

• newborn screening
• severe combined immunodeficiency
• T-cell lymphopenia
• TREC

Financial & competing interests disclosure

JM Routes has received a PI-initiated grant from Baxter Pharmaceuticals. JW Verbsky is also participating in the grant from Baxter Pharmaceuticals. This paper has been funded by the Medical College of Wisconsin, USA. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Newborn screening using the T-cell receptor excision circle assay is highly sensitive, highly specific and cost–effective for the diagnosis and treatment of severe T-cell lymphopenia (sTCL)/SCID.

• A T-cell receptor excision circle of zero is highly indicative of sTCL/SCID with clinical implications.

• Newborn screening for sTCL/SCID should continue to expand throughout the nation and world.

• Continued collaboration by care providers through sites of excellence and national registries is essential, as new dilemmas and controversies will continue to arise.

• Increasing development of detection methodologies, and continued collaborative efforts between healthcare providers and policymakers will likely lead to increased screening for other primary immunodeficiencies.

Notes

Data taken from [4].