Newborn screening for T-cell deficiency. Curr Opin Allergy Clin Immunol 2010 Dec;10(6):521-5
Date
09/25/2010Pubmed ID
20864885DOI
10.1097/ACI.0b013e32833fd6feScopus ID
2-s2.0-78449250740 (requires institutional sign-in at Scopus site) 18 CitationsAbstract
PURPOSE OF REVIEW: 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.
RECENT FINDINGS: 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.
SUMMARY: Newborn screening for T-cell deficiency has ushered in a new era in the detection of infants with primary immunodeficiencies.
Author List
Chase NM, Verbsky JW, Routes JMAuthors
John M. Routes MD Chief, Professor in the Pediatrics department at Medical College of WisconsinJames Verbsky MD, PhD Professor in the Pediatrics department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Education, Medical, ContinuingGenetic Testing
Hematopoietic Stem Cell Transplantation
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Lymphopenia
Severe Combined Immunodeficiency
T-Lymphocytes
Wisconsin
