Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles - 01/03/12
Corresponding author: Jennifer M. Puck, MD, University of California, San Francisco, Box 0519, 513 Parnassus Ave, HSE 301-A, San Francisco, CA 94143-0519.Abstract |
The most profound primary immunodeficiency disease, severe combined immunodeficiency (SCID), is fatal in infancy unless affected infants are provided with an adaptive immune system through allogeneic hematopoietic cell transplantation, enzyme replacement, or gene therapy. However, most infants with SCID lack a family history or any clinical clues before the onset of infections, making this serious but treatable disease a candidate for population-based newborn screening. Of several approaches considered for SCID screening, testing for T-cell receptor excision circles (TRECs), a DNA biomarker of normal T-cell development, has proved successful. TREC numbers can be measured in DNA isolated from the dried bloodspots already routinely collected for newborn screening. Infants with low or absent TRECs can thus be identified and referred for confirmatory testing and prompt intervention. TREC testing of newborns is now being performed in several states, indicating that this addition to the newborn screening panel can be successfully integrated into state public health programs.
Le texte complet de cet article est disponible en PDF.Key words : Primary immunodeficiency, T-cell receptor excision circle, severe combined immunodeficiency, lymphocytopenia, dried bloodspot, newborn screening
Abbreviations used : ALC, CHARGE, DBS, HCT, PIDTC, RAG, SCID, TCR, TCRA, TCRD, TREC
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| Series editors: Joshua A. Boyce, MD, Fred Finkelman, MD, William T. Shearer, MD, PhD, and Donata Vercelli, MD |
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| This work was made possible by funding from the National Institutes of Health (National Human Genome Research Institute Division of Intramural Research, National Institute of Allergy and Infectious Diseases for RO1 AI078248 and Primary Immune Deficiency Treatment Consortium U54 AI082973, the Eunice Kennedy Shriver National Institute of Child Health and Human Development for RO3 HD 060311 and National Center for Research Resources NCRR UCSF CTSI UL1 RR024131) and from the Jeffrey Modell Foundation. |
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| Terms in boldface and italics are defined in the glossary on page 608. |
Vol 129 - N° 3
P. 607-616 - mars 2012 Retour au numéro
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- The long quest for neonatal screening for severe combined immunodeficiency
- Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles
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