title: 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.
authors.affiliation: Allergy Immunology and Blood and Marrow Transplant Division, Department of Pediatrics, Benioff Children's Hospital and University of California San Francisco, San Francisco, CA 94143, USA.
authors.forename: Antonia
authors.initials: A
authors.lastname: Kwan
authors.affiliation: Department of Pediatrics, Tuba City Regional Health Care Center, Tuba City, AZ 86045, USA.
authors.forename: Diana
authors.initials: D
authors.lastname: Hu
authors.affiliation: Department of Pediatrics, Tuba City Regional Health Care Center, Tuba City, AZ 86045, USA.
authors.forename: Miran
authors.initials: M
authors.lastname: Song
authors.affiliation: Department of Pediatrics, Chinle Comprehensive Health Care Facility, Chinle, AZ 86503, USA.
authors.forename: Heidi
authors.initials: H
authors.lastname: Gomes
authors.affiliation: Department of Pediatrics, Tuba City Regional Health Care Center, Tuba City, AZ 86045, USA.
authors.forename: Denise R
authors.initials: DR
authors.lastname: Brown
authors.affiliation: Department of Pediatrics, Chinle Comprehensive Health Care Facility, Chinle, AZ 86503, USA.
authors.forename: Trudy
authors.initials: T
authors.lastname: Bourque
authors.affiliation: Allergy Immunology and Blood and Marrow Transplant Division, Department of Pediatrics, Benioff Children's Hospital and University of California San Francisco, San Francisco, CA 94143, USA.
authors.forename: Diana
authors.initials: D
authors.lastname: Gonzalez-Espinosa
authors.affiliation: Research and Development, PerkinElmer Genetics, Inc., Bridgeville, PA 15017, USA.
authors.forename: Zhili
authors.initials: Z
authors.lastname: Lin
authors.affiliation: Allergy Immunology and Blood and Marrow Transplant Division, Department of Pediatrics, Benioff Children's Hospital and University of California San Francisco, San Francisco, CA 94143, USA.
authors.forename: Morton J
authors.initials: MJ
authors.lastname: Cowan
authors.affiliation: Allergy Immunology and Blood and Marrow Transplant Division, Department of Pediatrics, Benioff Children's Hospital and University of California San Francisco, San Francisco, CA 94143, USA. Electronic address: puckj@peds.ucsf.edu.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
mesh_terms: D004268:DNA-Binding Proteins; D004720:Endonucleases; D005240:Feasibility Studies; D006801:Humans; D007198:Indians, North American / Q000235:genetics*; D007231:Infant, Newborn; D008231:Lymphopenia / Q000175:diagnosis* / Q000235:genetics; D015997:Neonatal Screening; D009687:Nuclear Proteins / Q000235:genetics*; D010865:Pilot Projects; D016133:Polymerase Chain Reaction; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C426344:DCLRE1C protein, human; D004720:Endonucleases
keywords: Artemis; Navajo; Newborn screening; Primary immunodeficiency; SCID; TREC