Successful newborn screening for SCID in the Navajo Nation

Clinical Immunology : the Official Journal of the Clinical Immunology Society
Antonia KwanJennifer 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.

Associated Clinical Trials

References

Sep 23, 2003·Current Opinion in Immunology·Jean-Pierre de VillartayIsabelle Villey
Feb 8, 2005·The Journal of Allergy and Clinical Immunology·Kee Chan, Jennifer M Puck
Jan 18, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Beth A TariniBenjamin S Wilfond
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Jan 8, 2014·Pediatrics·Jeffrey R BotkinUNKNOWN Bioethics and Legal Work Group of the Newborn Screening Translational Research Network
Jul 31, 2014·The New England Journal of Medicine·Sung-Yun PaiRichard J O'Reilly
Aug 21, 2014·JAMA : the Journal of the American Medical Association·Antonia KwanVincent R Bonagura

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Citations

Aug 8, 2015·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Waleed Al-HerzUNKNOWN USIDNET Consortium
May 6, 2015·Seminars in Perinatology·Antonia Kwan, Jennifer M Puck
Jun 6, 2016·The Journal of Allergy and Clinical Immunology·Linda M GriffithUNKNOWN workshop participants
Sep 10, 2016·Human Gene Therapy·Divya PunwaniMorton J Cowan
Jun 27, 2018·Scandinavian Journal of Immunology·Maryam NourizadehZahra Pourpak
Jan 1, 2015·Nature Reviews. Disease Primers·Alain FischerJennifer M Puck
Oct 30, 2015·Current Opinion in Allergy and Clinical Immunology·Stephen Holding, Stephen Jolles
Jan 23, 2019·Frontiers in Immunology·Maria J RecioLuis Ignacio Gonzalez-Granado
Sep 9, 2018·The Journal of Allergy and Clinical Immunology·Christopher C DvorakJennifer M Puck
Sep 20, 2021·The Journal of Allergy and Clinical Immunology·Maartje BlomMirjam van der Burg

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