Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011)

J Clin Immunol. 2012 Feb;32(1):82-8. doi: 10.1007/s10875-011-9609-4. Epub 2011 Nov 10.


Severe combined immunodeficiency is a life-threatening primary immune deficiency characterized by low numbers of naïve 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Humans
  • Immunophenotyping
  • Infant, Newborn
  • Lymphocyte Count
  • Lymphopenia / diagnosis
  • Lymphopenia / immunology
  • Neonatal Screening* / methods
  • Receptors, Antigen, T-Cell / immunology
  • Receptors, Antigen, T-Cell / metabolism
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / epidemiology
  • Severe Combined Immunodeficiency / immunology
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Wisconsin / epidemiology


  • Receptors, Antigen, T-Cell