NDLI: History and current status of newborn screening for severe combined immunodeficiency.

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History and current status of newborn screening for severe combined immunodeficiency.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Kwan, Antonia Puck, Jennifer M.
Spatial Coverage	United States
Description	Author Affiliation: Kwan A ( Department of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco, Box 0519, 513 Parnassus Ave, HSE 301A, San Francisco, CA 94143-0519.); Puck JM ( Department of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco, Box 0519, 513 Parnassus Ave, HSE 301A, San Francisco, CA 94143-0519. Electronic address: puckj@peds.ucsf.edu.)
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.
File Format	HTM / HTML
ISSN	01460005
e-ISSN	1558075X
DOI	10.1053/j.semperi.2015.03.004
Journal	Seminars in Perinatology
Issue Number	3
Volume Number	39
Language	English
Publisher	Elsevier
Publisher Date	2015-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Perinatology Lymphopenia Diagnosis Neonatal Screening Severe Combined Immunodeficiency T-lymphocytes Immunology Dried Blood Spot Testing Early Diagnosis History, 20th Century History, 21st Century Infant, Newborn Epidemiology Historical Article Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Pediatrics, Perinatology and Child Health Obstetrics and Gynecology

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