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Newborn screening for SCID: lessons learned
Becky J Buelow1, James W Verbsky1,2, John M Routes1,2
1a Department of Pediatrics , Medical College of Wisconsin , Milwaukee , WI , USA.
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.
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