Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017

American Academy of Pediatrics (AAP) - Tập 143 Số 2 - 2019
George S. Amatuni1,2, Robert Currier2, Joseph A. Church3, Tracey Bishop4, Elena Grimbacher5, Alan A. Nguyen6, Rajni Agarwal‐Hashmi7, Constantino P. Aznar4, Manish J. Butte8,9, Morton J. Cowan2, Morna J. Dorsey2, Christopher C. Dvorak2, Neena Kapoor3, Donald B. Kohn8,9, M. Louise Markert10, Theodore B. Moore8,9, Stanley J. Naides11, Stanley Sciortino4, Lisa Feuchtbaum4, Rasoul A. Koupaei4, Jennifer M. Puck2
1Department of Cell Biology, Stem Cell Institute, Albert Einstein College of Medicine, Bronx, New York;
2Department of Pediatrics, University of California, San Francisco and Benioff Children' s Hospital, San Francisco, California;
3Department of Pediatrics, Keck School of Medicine, University of Southern California and Children' s Hospital Los Angeles, Los Angeles, California;
4Genetic Disease Screening Program, California Department of Public Health, Richmond, California
5School of Architecture and Urban Planning, University of Stuttgart, Stuttgart, Germany;
6Broward Health Medical Center, Fort Lauderdale, Florida
7Department of Pediatrics, School of Medicine, Stanford University, Palo Alto, California;
8Department of Pediatrics, University of California, Los Angeles and University of California, Los Angeles Mattel Children’s Hospital, Los Angeles, California;
9Los Angeles Mattel Children' s Hospital, Los Angeles, California;
10Department of Pediatrics, School of Medicine, Duke University, Durham, North Carolina; and
11Immunology Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, California

Tóm tắt

OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 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. METHODS: 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. RESULTS: Infants with clinically significant T-cell lymphopenia (TCL) were successfully identified at a rate of 1 in 15 300 births. Of these, 50 cases of SCID, or 1 in 65 000 births (95% confidence interval 1 in 51 000–1 in 90 000) 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. CONCLUSIONS: 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.

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American Academy of Pediatrics (AAP)

Tập 143 Số 2

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