Newborn Blood Screening Can Detect Severe T-Cell Lymphopenia

Use of the TREC assay identified infants with T-cell lymphopenia.

Screening newborns for severe combined immunodeficiency syndrome or other congenital immunodeficiencies is not accepted universally. Measurement of T-cell receptor excision circles (TRECs) by real-time quantitative polymerase chain reaction using DNA isolated from newborn peripheral blood is a surrogate marker for the number of naive T-cells and should identify profound T-cell lymphopenia. Investigators examined whether the TREC assay using DNA isolated from dried blood spots from newborn screening cards can detect congenital lymphopenia in 71,000 infants born in Wisconsin in 2008.

Among 64,397 full-term infants, 23 (0.032% of all infants tested) had inconclusive TREC results and 12 (0.017%) had abnormal results (TREC values <25/μl). Repeat …

Reviewing Author

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)