The Wisconsin approach to newborn screening for severe combined immunodeficiency.

Authors :: Verbsky J
Thakar M
Routes J
Source :: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2012 Mar; Vol. 129 (3), pp. 622-7. Date of Electronic Publication: 2012 Jan 11.
Publication Year :: 2012
Abstract: Severe combined immunodeficiency (SCID) is a life-threatening disease of infants that is curable with hematopoietic cell transplantation if detected early. Population-based screening for SCID using the T-cell receptor excision circle (TREC) assay began in Wisconsin in 2008; 5 infants with SCID or other forms of severe T-cell lymphopenia (TCL) have been detected, and no infants with SCID have been missed. This review will provide an overview of the TREC screening assay and an update of the findings from Wisconsin on all infants screened from January 1, 2008, until December 31, 2010. Importantly, we give practical recommendations regarding newborn population-based screening using the TREC assay, including the evaluation and care of infants detected.<br /> (Copyright © 2012 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.)

Subjects :: Gene Rearrangement, T-Lymphocyte genetics
Humans
Infant, Newborn
Lymphopenia diagnosis
Pathology, Molecular methods
Pathology, Molecular trends
Severe Combined Immunodeficiency epidemiology
Severe Combined Immunodeficiency genetics
Severe Combined Immunodeficiency physiopathology
T-Lymphocytes immunology
T-Lymphocytes pathology
Wisconsin
DNA analysis
Hematopoietic Stem Cell Transplantation
Neonatal Screening methods
Practice Guidelines as Topic
Severe Combined Immunodeficiency diagnosis
T-Lymphocytes metabolism

Full Text Access

Tools