Document Detail

Newborn screening for T-cell deficiency.
MedLine Citation:
PMID:  20864885     Owner:  NLM     Status:  In-Process    
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.
Nicole M Chase; James W Verbsky; John M Routes
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Current opinion in allergy and clinical immunology     Volume:  10     ISSN:  1473-6322     ISO Abbreviation:  Curr Opin Allergy Clin Immunol     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-10-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100936359     Medline TA:  Curr Opin Allergy Clin Immunol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  521-5     Citation Subset:  IM    
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
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