Successful newborn screening for SCID in the Navajo Nation.
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ABSTRACT:
SUBMITTER: Kwan A
PROVIDER: S-EPMC4420660 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Publications
Successful newborn screening for SCID in the Navajo Nation.
Kwan Antonia A Hu Diana D Song Miran M Gomes Heidi H Brown Denise R DR Bourque Trudy T Gonzalez-Espinosa Diana D Lin Zhili Z Cowan Morton J MJ Puck Jennifer M JM
Clinical immunology (Orlando, Fla.) 20150308 1
Newborn screening (NBS) for severe combined immunodeficiency (SCID) identifies affected infants before the onset of life-threatening infections, permitting optimal treatment. Navajo Native Americans have a founder mutation in the DNA repair enzyme Artemis, resulting in frequent Artemis SCID (SCID-A). A pilot study at 2 Navajo hospitals assessed the feasibility of SCID NBS in this population. Dried blood spots from 1800 infants were assayed by PCR for T-cell receptor excision circles (TRECs), a b ...[more]
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