title: The case for newborn screening for severe combined immunodeficiency and related disorders.
abstract: Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating infections and provided with an immune system through allogenic hematopoietic cell transplantation, enzyme replacement, or gene therapy. A biomarker of normal T cell development, T cell receptor excision circles (TRECs), can be measured in DNA isolated from the dried blood spots routinely obtained for newborn screening; infants identified as lacking TRECs can thus receive confirmatory testing and prompt intervention. Early results of TREC testing of newborns in five states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. A variety of cases with typical SCID genotypes and other T lymphocytopenic conditions have been detected in a timely manner and referred for appropriate early treatment.
authors.affiliation: Department of Pediatrics, University of California San Francisco, San Francisco, California, USA. puckj@peds.ucsf.edu
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
mesh_terms: D004247:DNA / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D011948:Receptors, Antigen, T-Cell / Q000235:genetics / Q000276:immunology; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology
chemical_list: D011948:Receptors, Antigen, T-Cell; D004247:DNA