Newborn screening for T-cell deficiency.
OBJECTIVE
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.


RESULTS
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.


CONCLUSIONS
Newborn screening for T-cell deficiency has ushered in a new era in the detection of infants with primary immunodeficiencies.
Chase
Nicole M
NM
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Verbsky
James W
JW
Routes
John M
JM
D004502:Education, Medical, Continuing; D005820:Genetic Testing / Q000379:methods / Q000639:trends; D018380:Hematopoietic Stem Cell Transplantation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007231:Infant, Newborn; D008231:Lymphopenia; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000276:immunology* / Q000628:therapy; D013601:T-Lymphocytes / Q000276:immunology*; D014922:Wisconsin