title: Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011).
abstract: Severe combined immunodeficiency is a life-threatening primary immune deficiency characterized by low numbers of naïve T cells. Early diagnosis and treatment of this disease decreases mortality. In 2008, Wisconsin began newborn screening of infants for severe combined immunodeficiency and other forms of T-cell lymphopenia by the T-cell receptor excision circle assay. In total, 207,696 infants were screened. Seventy-two infants had an abnormal assay. T-cell numbers were normal in 38 infants, abnormal in 33 infants, and not performed in one infant, giving a positive predictive value for T-cell lymphopenia of any cause of 45.83% and a specificity of 99.98%. Five infants with severe combined immunodeficiency/severe T-cell lymphopenia requiring hematopoietic stem cell transplantation or other therapy were detected. In summary, the T-cell receptor excision circle assay is a sensitive and specific test to identify infants with severe combined immunodeficiency and severe T-cell lymphopenia that leads to life-saving therapies such as hematopoietic stem cell transplantation prior to the acquisition of severe infections.
authors: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
authors: James W
authors: JW
authors: Verbsky
authors: Mei W
authors: MW
authors: Baker
authors: William J
authors: WJ
authors: Grossman
authors: Mary
authors: M
authors: Hintermeyer
authors: Trivikram
authors: T
authors: Dasu
authors: Benedetta
authors: B
authors: Bonacci
authors: Sreelatha
authors: S
authors: Reddy
authors: David
authors: D
authors: Margolis
authors: James
authors: J
authors: Casper
authors: Miranda
authors: M
authors: Gries
authors: Ken
authors: K
authors: Desantes
authors: Gary L
authors: GL
authors: Hoffman
authors: Charles D
authors: CD
authors: Brokopp
authors: Christine M
authors: CM
authors: Seroogy
authors: John M
authors: JM
authors: Routes
mesh_terms: D006801:Humans; D016130:Immunophenotyping; D007231:Infant, Newborn; D018655:Lymphocyte Count; D008231:Lymphopenia / Q000175:diagnosis / Q000276:immunology; D015997:Neonatal Screening / Q000379:methods; D011948:Receptors, Antigen, T-Cell / Q000276:immunology / Q000378:metabolism; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000453:epidemiology / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism; D014922:Wisconsin / Q000453:epidemiology
chemical_list: D011948:Receptors, Antigen, T-Cell