Successful newborn screening for SCID in the Navajo Nation
Antonia Kwan, Diana Hu, Miran Song, Heidi Gomes, Denise R Brown, Trudy Bourque, Diana Gonzalez-Espinosa, Zhili Lin, Morton J Cowan, Jennifer M Puck, Antonia Kwan, Diana Hu, Miran Song, Heidi Gomes, Denise R Brown, Trudy Bourque, Diana Gonzalez-Espinosa, Zhili Lin, Morton J Cowan, Jennifer M Puck
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.
Keywords: Artemis; Navajo; Newborn screening; Primary immunodeficiency; SCID; TREC.
Copyright © 2015 Elsevier Inc. All rights reserved.
Source: PubMed