Sean McGhee

Publication Details

  • Two-tiered universal newborn screening strategy for severe combined immunodeficiency MOLECULAR GENETICS AND METABOLISM McGhee, S. A., Stiehm, E. R., Cowan, M., Krogstad, P., McCabe, E. R. 2005; 86 (4): 427-430


    Outcomes for infants with severe combined immunodeficiency (SCID) would be improved by universal newborn screening, but there are not yet screening tests of sufficient accuracy for the disorder. In a pilot study, we assessed the ability of a two-tiered strategy to improve accuracy. Dried blood samples from patients were assessed with two tests for lymphopenia: interleukin-7, a T-cell growth cytokine, and TRECs, a byproduct of T-cell receptor recombination. IL-7 screening has a specificity of 96.1% and TRECs have a specificity of 92.3%. Combining these tests in a two-tiered strategy increases specificity to 100% (97-100% CI). Sensitivity was 85% for IL-7 screening and 100% for TREC screening. A two-tiered strategy may be of sufficient accuracy to enable universal SCID screening, and should be assessed in a prospective trial.

    View details for DOI 10.1016/j.ymgme.2005.09.005

    View details for Web of Science ID 000234282500002

    View details for PubMedID 16260163

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