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JAMA. 2009 Dec 9;302(22):2465-70. doi: 10.1001/jama.2009.1806.

Statewide newborn screening for severe T-cell lymphopenia.

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  • 1Department of Pediatrics, Medical College of Wisconsin, and Children's Research Institute, Milwaukee, Wisconsin 53226-4874, USA.



A newborn blood screening (NBS) test that could identify infants with a profound deficiency of T cells may result in a reduction in mortality.


To determine if quantitating T-cell receptor excision circles (TRECs) using real-time quantitative polymerase chain reaction on DNA extracted from dried blood spots on NBS cards can detect infants with T-cell lymphopenia in a statewide program.


Between January 1 and December 31, 2008, the Wisconsin State Laboratory of Hygiene screened all infants born in Wisconsin for T-cell lymphopenia by quantitating the number of TRECs contained in a 3.2-mm punch (approximately 3 microL of whole blood) of the NBS card. Flow cytometry to enumerate the number of T cells was performed on full-term infants and preterm infants when they reached the equivalent of at least 37 weeks' gestation with TREC values of less than 25/microL. Infants with T-cell lymphopenia were evaluated by a clinical immunologist.


The number of infants with TREC values of less than 25/microL with T-cell lymphopenia confirmed by flow cytometry.


Exactly 71,000 infants were screened by the TREC assay. Seventeen infants aged at least 37 weeks' gestation had at least 1 abnormal TREC assay (TREC values < 25/microL), 11 of whom had samples analyzed by flow cytometry to enumerate T cells. Eight infants demonstrated T-cell lymphopenia. The causes of the T-cell lymphopenia included DiGeorge syndrome (n = 2), idiopathic T-cell lymphopenia (n = 2), extravascular extravasation of lymphocytes (n = 3), and a Rac2 mutation (n = 1). The infant with the Rac2 mutation underwent successful cord blood transplantation.


In a statewide screening program, use of the TREC assay performed on NBS cards was able to identify infants with T-cell lymphopenia.

[PubMed - indexed for MEDLINE]
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