Journal of Clinical Immunology

, Volume 32, Issue 1, pp 82–88

Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)

Authors

  • James W. Verbsky
    • Department of PediatricsMedical College of Wisconsin
    • Children’s Research Institute
  • Mei W. Baker
    • Wisconsin State Laboratory of HygieneUniversity of Wisconsin-Madison
    • Department of PediatricsUniversity of Wisconsin School of Medicine and Public Health
  • William J. Grossman
    • Department of PediatricsMedical College of Wisconsin
    • Biothera
  • Mary Hintermeyer
    • Department of Advanced Practice NursingChildren’s Hospital of Wisconsin
  • Trivikram Dasu
    • Department of PediatricsMedical College of Wisconsin
  • Benedetta Bonacci
    • Department of PediatricsMedical College of Wisconsin
  • Sreelatha Reddy
    • Department of PediatricsMedical College of Wisconsin
  • David Margolis
    • Department of PediatricsMedical College of Wisconsin
  • James Casper
    • Department of PediatricsMedical College of Wisconsin
  • Miranda Gries
    • Department of Advanced Practice NursingChildren’s Hospital of Wisconsin
  • Ken DeSantes
    • Department of PediatricsUniversity of Wisconsin School of Medicine and Public Health
  • Gary L. Hoffman
    • Wisconsin State Laboratory of HygieneUniversity of Wisconsin-Madison
    • Department of Population Health SciencesUniversity of Wisconsin School of Medicine and Public Health
  • Charles D. Brokopp
    • Wisconsin State Laboratory of HygieneUniversity of Wisconsin-Madison
    • Department of Population Health SciencesUniversity of Wisconsin School of Medicine and Public Health
  • Christine M. Seroogy
    • Department of PediatricsUniversity of Wisconsin School of Medicine and Public Health
    • Department of PediatricsMedical College of Wisconsin
    • Children’s Research Institute
Article

DOI: 10.1007/s10875-011-9609-4

Cite this article as:
Verbsky, J.W., Baker, M.W., Grossman, W.J. et al. J Clin Immunol (2012) 32: 82. doi:10.1007/s10875-011-9609-4

Abstract

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.

Keywords

SCIDTREClymphopenianewborn screening

Abbreviations

SCID

Severe combined immunodeficiency

HSCT

Hematopoietic stem cell transplantation

NBS

Newborn screening

TREC

T-cell receptor excision circles

Copyright information

© Springer Science+Business Media, LLC 2011