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Statewide newborn screening for severe T-cell lymphopenia.

John M Routes1, William J Grossman, James Verbsky

  • 1Department of Pediatrics, Medical College of Wisconsin, and Children's Research Institute, Milwaukee, Wisconsin 53226-4874, USA. jroutes@mcw.edu

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|December 10, 2009
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Summary

Newborn blood screening using T-cell receptor excision circles (TRECs) can identify infants with T-cell lymphopenia. This method, applied in a statewide program, helps detect severe T-cell deficiencies early, potentially reducing mortality.

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Area of Science:

  • Immunology
  • Genetics
  • Neonatal screening

Background:

  • Profound T-cell deficiency in newborns can lead to increased mortality.
  • Newborn blood screening (NBS) offers a potential method for early identification of at-risk infants.
  • Early detection of T-cell lymphopenia is crucial for timely intervention and improved outcomes.

Purpose of the Study:

  • To evaluate the efficacy of quantifying T-cell receptor excision circles (TRECs) via real-time quantitative polymerase chain reaction (qPCR) on dried blood spots.
  • To determine if TREC quantitation on NBS cards can reliably detect infants with T-cell lymphopenia within a large-scale, statewide program.
  • To assess the feasibility of integrating TREC analysis into existing newborn screening protocols.

Main Methods:

  • A statewide screening program in Wisconsin analyzed TREC levels in approximately 71,000 infants born between January 1 and December 31, 2008.
  • DNA was extracted from dried blood spots on NBS cards, and TREC numbers were quantified using real-time qPCR.
  • Infants with TREC values below 25/microL underwent confirmatory testing using flow cytometry to enumerate T cells, with clinical evaluation by an immunologist for those diagnosed with T-cell lymphopenia.

Main Results:

  • The TREC assay identified 17 infants with abnormal TREC values (< 25/microL) among the 71,000 screened.
  • Flow cytometry confirmed T-cell lymphopenia in 8 of these infants.
  • Diagnoses included DiGeorge syndrome, idiopathic T-cell lymphopenia, extravascular extravasation of lymphocytes, and a Rac2 mutation, with one infant successfully treated via cord blood transplantation.

Conclusions:

  • The TREC assay, performed on standard NBS cards, effectively identified infants with T-cell lymphopenia in a real-world, statewide screening setting.
  • This method demonstrates the potential for reducing mortality associated with profound T-cell deficiencies through early detection.
  • Quantitating TRECs is a viable strategy for enhancing newborn screening protocols to include T-cell lymphopenia detection.