lunes, 23 de marzo de 2015

Successful newborn screening for SCID in the Navajo Nation. - PubMed - NCBI

Successful newborn screening for SCID in the Navajo Nation. - PubMed - NCBI



 2015 Mar 8. pii: S1521-6616(15)00090-X. doi: 10.1016/j.clim.2015.02.015. [Epub ahead of print]

Successful newborn screening for SCID in the Navajo Nation.

Abstract

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 biomarker for naïve T cells. Starting in February 2012, TREC testing transitioned to standard care throughout the Navajo Area Indian Health Service, and a total of 7900 infants were screened through July 2014. One infant had low TRECs and was diagnosed with non-SCID T lymphopenia, while 4 had undetectable TRECs due to SCID-A, all of whom were referred for hematopoietic cell transplantation. This report establishes the incidence of SCID-A and demonstrates effectiveness of TREC NBS in the Navajo.
Copyright © 2015. Published by Elsevier Inc.

KEYWORDS:

Artemis; Navajo; Newborn screening; Primary immunodeficiency; SCID; TREC

PMID:
 
25762520
 
[PubMed - as supplied by publisher]

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