![]() ![]() Of these, 562 (1 of 5800 total births) had nonnormal TREC results followed by liquid blood lymphocyte phenotyping by flow cytometry ( Fig 1A). Resultsīetween August 15, 2010, and March 31, 2017, a total of 3 252 156 newborns had SCID screening. Diagnoses were established by standard clinical testing, including gene sequencing, except as noted below. 19 Children with SCID or TCL detected by NBS were managed until resolution or for at least 1 year and up to 7.5 years. Long-term follow-up was requested from transplant centers and immunologists according to the standard, comprehensive CDPH program to monitor outcomes of all California infants with positive NBS results. Additionally, infants with up to 1500 circulating T cells per μL with naïve T cells present were referred to pediatric immunology clinics for further management. Infants with <300 CD3 T cells per μL of blood or with <2% of their helper T cells bearing the naïve T-cell marker CD45RA were referred to pediatric hospitals with experience in treating SCID (Children’s Hospital Los Angeles Stanford Lucille Packard Children’s Hospital University of California, Los Angeles Mattel Children’s Hospital or University of California, San Francisco Benioff Children’s Hospital). Lymphocyte phenotypes were interpreted by California Department of Public Health (CDPH) immunology associates (M.J.B., J.A.C., S.A.M., and J.M.P.). Moreover, a low TREC copy number in a DBS is used to detect not only the primary screening target, SCID, but also several non-SCID conditions characterized by T-cell lymphopenia (TCL) that may also benefit from early diagnosis and intervention to prevent infections. 3 DBSs from newborns with SCID have undetectable or low numbers of TRECs. 13, – 16 The SCID NBS test is based on detection of T-cell receptor excision circles (TRECs), DNA biomarkers of normal T lymphopoiesis that can be measured by a polymerase chain reaction test by using dried blood spots (DBSs) routinely obtained from newborns by heel stick. California instituted population-wide screening for SCID in August 2010, following pilot programs in Wisconsin, Massachusetts, and the Navajo Reservation and on the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (endorsed by the Secretary of the Department of Health and Human Services) that screening for SCID be added to the Recommended Uniform Screening Panel. The timely presymptomatic diagnosis of SCID is the primary goal of SCID NBS. Dr Puck discloses spousal employment at a clinical DNA sequencing company, Invitae the other authors have indicated they have no potential conflicts of interest to disclose. ![]() Dr Cowan serves on the Scientific Advisory Boards for Homology Medicine, Inc, and Exogen, Inc, and on the Data and Safety Monitoring Board for bluebird bio, Inc. ![]() Donald Kohn is an inventor of a lentiviral vector for gene therapy of adenosine deaminase severe combined immunodeficiency, which Orchard Therapeutics Ltd has licensed from the University of California Regents Dr Kohn is a consultant to Orchard Therapeutics Ltd and a member of its Scientific Advisory Board. Dr Naides is employed by Quest Diagnostics. If the technology is commercially successful in the future, Dr Markert and Duke University may benefit financially. Portions of Dr Markert and her research team’s salaries are being paid by the funding from Enzyvant. Dr Markert has received royalties from Enzyvant. POTENTIAL CONFLICT OF INTEREST: Dr Markert developed technology for RVT-802, which has been licensed to Enzyvant Therapeutics GmbH. ![]()
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