Document Detail

Neonatal screening for severe combined immune deficiency.
MedLine Citation:
PMID:  17989529     Owner:  NLM     Status:  MEDLINE    
PURPOSE OF REVIEW: Severe combined immunodeficiency has been identified as a high-priority disease for inclusion in population-based newborn screening programs. In this review, the justification, advances to date and remaining challenges for universal severe combined immunodeficiency screening are outlined. RECENT FINDINGS: Severe combined immunodeficiency is treatable by hematopoietic stem cell transplantation, with best outcome if recognized and treated early in life. Universal screening of newborns could make possible prompt diagnosis and lifesaving treatment for all affected infants. One screening test using the dried blood spots already collected from all newborns involves quantitation of T cell receptor excision circles, and other test methods have been proposed and are being evaluated. Development of screening programs will require integration of screening, contacting infants with abnormal screen results for definitive testing, prompt treatment of affected infants, and outcome tracking. SUMMARY: Newborn screening for severe combined immunodeficiency is advancing toward pilot trials.
Jennifer M Puck
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Current opinion in allergy and clinical immunology     Volume:  7     ISSN:  1528-4050     ISO Abbreviation:  Curr Opin Allergy Clin Immunol     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-11-08     Completed Date:  2008-03-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100936359     Medline TA:  Curr Opin Allergy Clin Immunol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  522-7     Citation Subset:  IM    
Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143-0519, USA.
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MeSH Terms
Hematopoietic Stem Cell Transplantation
Infant, Newborn
Neonatal Screening / methods*
Severe Combined Immunodeficiency / diagnosis*,  therapy

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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