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van der Burg M, Mahlaoui N, Gaspar HB, et al. Universal Newborn Screening for Severe Combined Immunodeficiency (SCID). Front Pediatr. 2019;7:373doi: 10.3389/fped.2019.00373.
van der Burg, M., Mahlaoui, N., Gaspar, H. B., & Pai, S. Y. (2019). Universal Newborn Screening for Severe Combined Immunodeficiency (SCID). Frontiers in pediatrics, 7373. https://doi.org/10.3389/fped.2019.00373
van der Burg, Mirjam, et al. "Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)." Frontiers in pediatrics vol. 7 (2019): 373. doi: https://doi.org/10.3389/fped.2019.00373
van der Burg M, Mahlaoui N, Gaspar HB, Pai SY. Universal Newborn Screening for Severe Combined Immunodeficiency (SCID). Front Pediatr. 2019 Sep 18;7:373. doi: 10.3389/fped.2019.00373. eCollection 2019. PMID: 31620409; PMCID: PMC6759820.
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Front Pediatr. 2019 Sep 18;7:373. doi: 10.3389/fped.2019.00373. eCollection 2019.

Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).

Frontiers in pediatrics

Mirjam van der Burg, Nizar Mahlaoui, Hubert Bobby Gaspar, Sung-Yun Pai

Affiliations

  1. Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands.
  2. Centre de Référence Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
  3. Molecular and Cellular Immunology, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  4. Division of Hematology-Oncology, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.
  5. Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, United States.
  6. Department of Pediatrics, Harvard Medical School, Boston, MA, United States.

PMID: 31620409 PMCID: PMC6759820 DOI: 10.3389/fped.2019.00373

Abstract

Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with allogeneic hematopoietic stem cell transplantation. Universal newborn screening for SCID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC screening, and continued challenges to implementation.

Copyright © 2019 van der Burg, Mahlaoui, Gaspar and Pai.

Keywords: T lymphocytes; allogeneic hematopoietic stem cell transplantation; newborn screening; public health; severe combined immunodeficiency

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