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Curr Opin Allergy Clin Immunol. 2010 Dec;10(6):521-5. doi: 10.1097/ACI.0b013e32833fd6fe.

Newborn screening for T-cell deficiency.

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  • 1Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.



Newborn screening for T-cell deficiency is ongoing in two states, and the published results of 1 year of screening in Wisconsin are favorable. In this review, the history, methodology, results, challenges, and future direction of screening are discussed.


As a concept, newborn blood screening (NBS) has evolved from the detection of elevated levels of phenylalanine on filter paper to the application of DNA-based technologies to identify T-cell lymphopenia in infants with severe combined immunodeficiency (SCID). After diagnosis by NBS, one infant with SCID received a hematopoietic stem cell transplant (HSCT), and several others are currently undergoing evaluation for HSCT. The utility of NBS for T-cell deficiency is dependent on the NBS program to define a rigorous screening protocol, ensure seamless follow-up of all identified infants, and demand a renewed emphasis on the training of future clinical immunologists to care for these patients. DNA-based NBS assays are currently being evaluated to identify infants with other serious diseases.


Newborn screening for T-cell deficiency has ushered in a new era in the detection of infants with primary immunodeficiencies.

[PubMed - indexed for MEDLINE]
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