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Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011). J Clin Immunol 2012 Feb;32(1):82-8



Pubmed ID




Scopus ID

2-s2.0-84862249006   106 Citations


Severe combined immunodeficiency is a life-threatening primary immune deficiency characterized by low numbers of na??ve T cells. Early diagnosis and treatment of this disease decreases mortality. In 2008, Wisconsin began newborn screening of infants for severe combined immunodeficiency and other forms of T-cell lymphopenia by the T-cell receptor excision circle assay. In total, 207,696 infants were screened. Seventy-two infants had an abnormal assay. T-cell numbers were normal in 38 infants, abnormal in 33 infants, and not performed in one infant, giving a positive predictive value for T-cell lymphopenia of any cause of 45.83% and a specificity of 99.98%. Five infants with severe combined immunodeficiency/severe T-cell lymphopenia requiring hematopoietic stem cell transplantation or other therapy were detected. In summary, the T-cell receptor excision circle assay is a sensitive and specific test to identify infants with severe combined immunodeficiency and severe T-cell lymphopenia that leads to life-saving therapies such as hematopoietic stem cell transplantation prior to the acquisition of severe infections.

Author List

Verbsky JW, Baker MW, Grossman WJ, Hintermeyer M, Dasu T, Bonacci B, Reddy S, Margolis D, Casper J, Gries M, Desantes K, Hoffman GL, Brokopp CD, Seroogy CM, Routes JM


David A. Margolis MD Interim Chair, Professor in the Pediatrics department at Medical College of Wisconsin
John M. Routes MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin
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

Infant, Newborn
Lymphocyte Count
Neonatal Screening
Receptors, Antigen, T-Cell
Severe Combined Immunodeficiency