Abstract | PURPOSE OF REVIEW: 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:
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Authors | Jennifer M Puck |
Journal | Current opinion in allergy and clinical immunology
(Curr Opin Allergy Clin Immunol)
Vol. 7
Issue 6
Pg. 522-7
(Dec 2007)
ISSN: 1528-4050 [Print] United States |
PMID | 17989529
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
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Topics |
- Hematopoietic Stem Cell Transplantation
- Humans
- Infant, Newborn
- Neonatal Screening
(methods)
- Severe Combined Immunodeficiency
(diagnosis, therapy)
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