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History and current status of newborn screening for severe combined immunodeficiency.
- Source :
-
Seminars in perinatology [Semin Perinatol] 2015 Apr; Vol. 39 (3), pp. 194-205. Date of Electronic Publication: 2015 Apr 30. - Publication Year :
- 2015
-
Abstract
- The development of a T-cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T-cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal period, while asymptomatic, permits early treatment and restoration of a functional immune system. SCID was the first immunodeficiency disease to be added to the Recommended Uniform Screening Panel of Core Conditions in the United States in 2010, and it is now implemented in 26 states in the U.S. This review covers the development of newborn screening for SCID, the biology of the TREC test, its current implementation in the U.S., new findings for SCID in the newborn screening era, and future directions.<br /> (Copyright © 2015 Elsevier Inc. All rights reserved.)
- Subjects :
- Dried Blood Spot Testing
Early Diagnosis
History, 20th Century
History, 21st Century
Humans
Infant, Newborn
Lymphopenia immunology
Neonatal Screening history
Neonatal Screening trends
Severe Combined Immunodeficiency immunology
United States epidemiology
Lymphopenia diagnosis
Neonatal Screening methods
Severe Combined Immunodeficiency diagnosis
T-Lymphocytes immunology
Subjects
Details
- Language :
- English
- ISSN :
- 1558-075X
- Volume :
- 39
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Seminars in perinatology
- Publication Type :
- Academic Journal
- Accession number :
- 25937517
- Full Text :
- https://doi.org/10.1053/j.semperi.2015.03.004