Journal article
A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency—An Ontario Single-Centre Experience Spanning 2013–2023
Abstract
BACKGROUND: Severe combined immunodeficiency (SCID) is a life-threatening genetic disorder caused by critical defects of the immune system. Almost all cases are lethal if not treated within the first two years of life. Early diagnosis and intervention are thus essential for improving patient outcomes. In 2013, Ontario became the first Canadian province to perform newborn screening (NBS) for SCID by T cell receptor excision circles (TRECs) …
Authors
Al Ghamdi A; Pachul JW; Al Shaqaq A; Fraser M; Watts-Dickens A; Yang N; Vong L; Kim VHD; Siu VM; Pham-Huy A
Journal
Genes, Vol. 15, No. 7,
Publisher
MDPI
DOI
10.3390/genes15070920
ISSN
2073-4425