Document Detail


Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
MedLine Citation:
PMID:  22285280     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The most profound primary immunodeficiency disease, severe combined immunodeficiency (SCID), is fatal in infancy unless affected infants are provided with an adaptive immune system through allogeneic hematopoietic cell transplantation, enzyme replacement, or gene therapy. However, most infants with SCID lack a family history or any clinical clues before the onset of infections, making this serious but treatable disease a candidate for population-based newborn screening. Of several approaches considered for SCID screening, testing for T-cell receptor excision circles (TRECs), a DNA biomarker of normal T-cell development, has proved successful. TREC numbers can be measured in DNA isolated from the dried bloodspots already routinely collected for newborn screening. Infants with low or absent TRECs can thus be identified and referred for confirmatory testing and prompt intervention. TREC testing of newborns is now being performed in several states, indicating that this addition to the newborn screening panel can be successfully integrated into state public health programs.
Authors:
Jennifer M Puck
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-01-29
Journal Detail:
Title:  The Journal of allergy and clinical immunology     Volume:  129     ISSN:  1097-6825     ISO Abbreviation:  J. Allergy Clin. Immunol.     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-03-05     Completed Date:  2012-07-06     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  1275002     Medline TA:  J Allergy Clin Immunol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  607-16     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2012 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Biological Markers / analysis
DNA / analysis*
Gene Rearrangement, T-Lymphocyte / genetics
Humans
Infant, Newborn
Neonatal Screening*
Public Health
Severe Combined Immunodeficiency / diagnosis*,  genetics*,  immunology
Grant Support
ID/Acronym/Agency:
R01 AI078248/AI/NIAID NIH HHS; R01 AI078248/AI/NIAID NIH HHS; R01 AI078248-02/AI/NIAID NIH HHS; R03 HD 060311/HD/NICHD NIH HHS; R03 HD060311/HD/NICHD NIH HHS; R03 HD060311-02/HD/NICHD NIH HHS; U54 AI082973/AI/NIAID NIH HHS; U54 AI082973/AI/NIAID NIH HHS; U54 AI082973-01/AI/NIAID NIH HHS; UL1 RR024131/RR/NCRR NIH HHS; UL1 RR024131/RR/NCRR NIH HHS; UL1 RR024131-04/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/Biological Markers; 9007-49-2/DNA
Comments/Corrections
Comment In:
J Allergy Clin Immunol. 2013 Apr;131(4):1251-2   [PMID:  23333079 ]
J Allergy Clin Immunol. 2013 Apr;131(4):1252-3   [PMID:  23321207 ]

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


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