Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

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

doi:10.3389/fped.2019.00373

Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

Front Pediatr. 2019 Sep 18:7:373. doi: 10.3389/fped.2019.00373. eCollection 2019.

Authors

Mirjam van der Burg¹, Nizar Mahlaoui², Hubert Bobby Gaspar³, Sung-Yun Pai^{4

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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.

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.

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

Publication types

Review