Newborn screening for SCID: lessons learned

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)
• severe combined immunodeficiency (SCID)
• T cell lymphopenia (TCL)
• T cell receptor excision circle (TREC)
• review

Financial & competing interests disclosure

The authors have no 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. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.