Management of newborn screening for severe combined immunodeficiency at a quaternary referral centre—an updated algorithm

Publication: LymphoSign Journal
5 July 2023

Abstract

Severe combined immunodeficiency (SCID) is caused by critical genetic defects affecting the immune system. Early diagnosis and intervention are essential for preventing life-threatening infections, end-organ damage, and complications. Newborn screening for SCID is currently performed in many provinces and territories across Canada. The SickKids Newborn Screening Centre in Toronto, Ontario, is a quaternary referral centre that has evaluated SCID newborn screen-positive infants since the program’s introduction in 2013. Here, we provide updated algorithms for clinical investigation and follow-up of infants with an initial positive screen.
Statement of novelty: We provide algorithms for the clinical follow-up of SCID newborn screen-positive infants at a quaternary referral centre.

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Information & Authors

Information

Published In

cover image LymphoSign Journal
LymphoSign Journal
Volume 10Number 2June 2023
Pages: 36 - 41

History

Received: 3 May 2023
Accepted: 29 May 2023
Accepted manuscript online: 29 May 2023
Version of record online: 5 July 2023

Authors

Affiliations

Chaim M. Roifman [email protected]
The Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON
Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON
Linda Vong
The Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON
Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON

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