Journal
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Volume 129, Issue 3, Pages 622-627Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2011.12.004
Keywords
Severe combined immunodeficiency; T-cell receptor excision circle; lymphopenia; newborn screening
Categories
Funding
- Children's Hospital of Wisconsin
- Jeffrey Modell Foundation
- Wisconsin State Laboratory of Hygiene
- Centers for Disease Control and Prevention [U01 EH000365]
- National Institutes of Health
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Severe combined immunodeficiency (SCID) is a life-threatening disease of infants that is curable with hematopoietic cell transplantation if detected early. Population-based screening for SCID using the T-cell receptor excision circle (TREC) assay began in Wisconsin in 2008; 5 infants with SCID or other forms of severe T-cell lymphopenia (TCL) have been detected, and no infants with SCID have been missed. This review will provide an overview of the TREC screening assay and an update of the findings from Wisconsin on all infants screened from January 1, 2008, until December 31, 2010. Importantly, we give practical recommendations regarding newborn population-based screening using the TREC assay, including the evaluation and care of infants detected. (J Allergy Clin Immunol 2012; 129: 622-7.)
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