Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

Severe combined immunodeficiency (SCID) is characterized by a major T cell deficiency. Infants with SCID are asymptomatic at birth but die from infections in the first year of life if not treated. Survival rates are better for early treatment. SCID therefore meets criteria for newborn screening (NBS...

Full description

Saved in:
Bibliographic Details
Published in:Journal of clinical immunology Vol. 38; no. 7; pp. 778 - 786
Main Authors: Audrain, Marie A. P., Léger, Alexandra J. C., Hémont, Caroline A. F., Mirallié, Sophie M., Cheillan, David, Rimbert, Marie G. M., Le Thuaut, Aurélie M-P., Sébille-Rivain, Véronique A., Prat, Aurore, Pinel, Enora M. Q., Divry, Eléonore, Dert, Cécile G. L., Fournier, Maxime A. G., Thomas, Caroline J. C.
Format: Journal Article
Language:English
Published: New York Springer US 01-10-2018
Springer Nature B.V
Springer Verlag
Subjects:
Biomedical and Life Sciences
Biomedicine
Birth
Clinical trials
Decision making
Feasibility studies
Human health and pathology
Immunology
Infants
Infectious Diseases
Internal Medicine
Life Sciences
Lymphocytes
Medical Microbiology
Medical screening
Original Article
Severe combined immunodeficiency
T cell receptors
France
Newborn screening
clinical performance
severe combined immunodeficiency (SCID)
analytic performance
T cell receptor excision circle (TREC) quantification
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Severe combined immunodeficiency (SCID) is characterized by a major T cell deficiency. Infants with SCID are asymptomatic at birth but die from infections in the first year of life if not treated. Survival rates are better for early treatment. SCID therefore meets criteria for newborn screening (NBS). T cell receptor excision circle (TREC) quantification is a reliable marker of T cell deficiency and can be performed using Guthrie cards. The DEPISTREC project was designed to study the feasibility, clinical utility, and cost-effectiveness of generalized SCID screening in France. About 200,000 babies from all over the country were screened at birth with a commercial kit. We determined assay performance and proposed a cutoff for classification of results. Our findings suggest that, given clearly established validation rules and decision-making procedures, the TREC assay is a suitably specific and sensitive method for high-throughput SCID screening. Clinical Trials: NCT02244450
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0271-9142
1573-2592
DOI:10.1007/s10875-018-0550-7