Faculty Collaboration Database

Statewide newborn screening for severe T-cell lymphopenia. JAMA 2009 Dec 09;302(22):2465-70

Date

12/10/2009

Pubmed ID

19996402

DOI

10.1001/jama.2009.1806

Scopus ID

2-s2.0-71549150905 (requires institutional sign-in at Scopus site)   177 Citations

Abstract

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

OBJECTIVE: 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.

DESIGN, SETTING, AND PARTICIPANTS: 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.

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

RESULTS: 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.

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

Author List

Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, Baker MW

Author

James Verbsky MD, PhD Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Humans
Immunophenotyping
Infant, Newborn
Infant, Premature
Infant, Premature, Diseases
Lymphopenia
Neonatal Screening
Polymerase Chain Reaction
Receptors, Antigen, T-Cell
Severe Combined Immunodeficiency
T-Lymphocyte Subsets
Wisconsin