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

Publication ,  Journal Article
Amatuni, GS; Currier, RJ; Church, JA; Bishop, T; Grimbacher, E; Nguyen, AA-C; Agarwal-Hashmi, R; Aznar, CP; Butte, MJ; Cowan, MJ; Dorsey, MJ ...
Published in: Pediatrics
February 2019

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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Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

February 2019

Volume

143

Issue

2

Location

United States

Related Subject Headings

  • T-Lymphocytes
  • Severe Combined Immunodeficiency
  • Pediatrics
  • Neonatal Screening
  • Male
  • Lymphopenia
  • Infant, Newborn
  • Humans
  • Female
  • Dried Blood Spot Testing
 

Citation

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Chicago
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Amatuni, G. S., Currier, R. J., Church, J. A., Bishop, T., Grimbacher, E., Nguyen, A.-C., … Puck, J. M. (2019). Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics, 143(2). https://doi.org/10.1542/peds.2018-2300
Amatuni, George S., Robert J. Currier, Joseph A. Church, Tracey Bishop, Elena Grimbacher, Alan Anh-Chuong Nguyen, Rajni Agarwal-Hashmi, et al. “Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.Pediatrics 143, no. 2 (February 2019). https://doi.org/10.1542/peds.2018-2300.
Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA-C, et al. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics. 2019 Feb;143(2).
Amatuni, George S., et al. “Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.Pediatrics, vol. 143, no. 2, Feb. 2019. Pubmed, doi:10.1542/peds.2018-2300.
Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA-C, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics. 2019 Feb;143(2).

Published In

Pediatrics

DOI

EISSN

1098-4275

Publication Date

February 2019

Volume

143

Issue

2

Location

United States

Related Subject Headings

  • T-Lymphocytes
  • Severe Combined Immunodeficiency
  • Pediatrics
  • Neonatal Screening
  • Male
  • Lymphopenia
  • Infant, Newborn
  • Humans
  • Female
  • Dried Blood Spot Testing