A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023.

Abdulrahman Al GhamdiJessica Willett PachulAzhar Al ShaqaqMeghan FraserAbby Watts-DickensNicole YangLinda VongVy H D KimVictoria Mok SiuAnne Pham-HuyRae BragerBrenda ReidChaim M Roifman

Published in: Genes (2024)

This is the first report of NBS outcomes in a Canadian province describing the causative genetic defects, and the non-SCID causes of a positive NBS for SCID.

Keyphrases

south africa
pregnant women
high throughput
early onset
gestational age
copy number
cord blood
type diabetes
gene expression
drug induced
insulin resistance
weight loss