{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:49:57Z","timestamp":1790858997165,"version":"4.1.0"},"reference-count":39,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,1]]},"abstract":"<jats:sec>\n                    <jats:title>OBJECTIVES:<\/jats:title>\n                    <jats:p>Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3\u2009252\u2009156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TRECs). Abnormal TREC results were followed-up with liquid blood testing for T-cell abnormalities. We report the performance of the SCID screening program and the outcomes of infants who were identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS:<\/jats:title>\n                    <jats:p>Data that were reviewed and analyzed included demographics, nursery summaries, TREC and lymphocyte flow-cytometry values, and available follow-up, including clinical and genetic diagnoses, treatments, and outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS:<\/jats:title>\n                    <jats:p>Infants with clinically significant T-cell lymphopenia (TCL) were successfully identified at a rate of 1 in 15\u2009300 births. Of these, 50 cases of SCID, or 1 in 65\u2009000 births (95% confidence interval 1 in 51\u2009000\u20131 in 90\u2009000) were found. Prompt treatment led to 94% survival. Infants with non-SCID TCL were also identified, diagnosed and managed, including 4 with complete DiGeorge syndrome who received thymus transplants. Although no cases of typical SCID are known to have been missed, 2 infants with delayed-onset leaky SCID had normal neonatal TREC screens but came to clinical attention at 7 and 23 months of age.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS:<\/jats:title>\n                    <jats:p>Population-based TREC testing, although unable to detect immune defects in which T cells are present at birth, is effective for identifying SCID and clinically important TCL with high sensitivity and specificity. The experience in California supports the rapid, widespread adoption of SCID newborn screening.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1542\/peds.2018-2300","type":"journal-article","created":{"date-parts":[[2019,1,25]],"date-time":"2019-01-25T08:25:39Z","timestamp":1548404739000},"source":"Crossref","is-referenced-by-count":182,"title":["Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010\u20132017"],"prefix":"10.1542","volume":"143","author":[{"given":"George S.","family":"Amatuni","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco and Benioff Children\u2019s Hospital, San Francisco, California;"},{"name":"Department of Cell Biology, Stem Cell Institute, Albert Einstein College of Medicine, Bronx, New York;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Currier","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco and Benioff Children\u2019s Hospital, San Francisco, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph A.","family":"Church","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keck School of Medicine, University of Southern California and Children\u2019s Hospital Los Angeles, Los Angeles, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracey","family":"Bishop","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Grimbacher","sequence":"additional","affiliation":[{"name":"School of Architecture and Urban Planning, University of Stuttgart, Stuttgart, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan Anh-Chuong","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Broward Health Medical Center, Fort Lauderdale, Florida;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajni","family":"Agarwal-Hashmi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Stanford University, Palo Alto, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantino P.","family":"Aznar","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish J.","family":"Butte","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, Los Angeles and University of California, Los Angeles Mattel Children\u2019s Hospital, Los Angeles, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morton J.","family":"Cowan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco and Benioff Children\u2019s Hospital, San Francisco, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morna J.","family":"Dorsey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco and Benioff Children\u2019s Hospital, San Francisco, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher C.","family":"Dvorak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco and Benioff Children\u2019s Hospital, San Francisco, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neena","family":"Kapoor","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keck School of Medicine, University of Southern California and Children\u2019s Hospital Los Angeles, Los Angeles, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald B.","family":"Kohn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, Los Angeles and University of California, Los Angeles Mattel Children\u2019s Hospital, Los Angeles, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Louise","family":"Markert","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Duke University, Durham, North Carolina; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodore B.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, Los Angeles and University of California, Los Angeles Mattel Children\u2019s Hospital, Los Angeles, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley J.","family":"Naides","sequence":"additional","affiliation":[{"name":"Immunology Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley","family":"Sciortino","sequence":"additional","affiliation":[{"name":"Genetic Disease Screening Program, California Department of Public Health, Richmond, 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