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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.

journal_name

J Clin Immunol

journal_title

Journal of clinical immunology

authors

Verbsky JW,Baker MW,Grossman WJ,Hintermeyer M,Dasu T,Bonacci B,Reddy S,Margolis D,Casper J,Gries M,Desantes K,Hoffman GL,Brokopp CD,Seroogy CM,Routes JM

doi

10.1007/s10875-011-9609-4

subject

Has Abstract

pub_date

2012-02-01 00:00:00

pages

82-8

issue

1

eissn

0271-9142

issn

1573-2592

journal_volume

32

pub_type

杂志文章

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