The Wisconsin approach to newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2012 Mar;129(3):622-7
Date
01/17/2012Pubmed ID
22244594DOI
10.1016/j.jaci.2011.12.004Scopus ID
2-s2.0-84857715837 (requires institutional sign-in at Scopus site) 93 CitationsAbstract
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.
Author List
Verbsky J, Thakar M, Routes JAuthors
John Routes MD Professor in the Pediatrics department at Medical College of WisconsinJames Verbsky PhD, MD Professor in the Pediatrics department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
DNAGene Rearrangement, T-Lymphocyte
Hematopoietic Stem Cell Transplantation
Humans
Infant, Newborn
Lymphopenia
Neonatal Screening
Pathology, Molecular
Practice Guidelines as Topic
Severe Combined Immunodeficiency
T-Lymphocytes
Wisconsin
