Immunodeficiency screening: is disruption of the BCG programme really warranted?
Sam Oddie, Helen Mactier
Abstract
Many UK paediatricians and neonatologists will be aware that the National Screening Committee (NSC) is piloting screening for severe combined immunodeficiency (SCID) from September 2021. Lymphopaenia will be detected in newborn bloodspots using T cell receptor excision circles, a DNA biomarker for T cells. This is expected to be a sensitive but poorly specific screening test with SCID diagnosed in around 18 newborns in the UK and an estimated 260 newborns screen positive annually.1 Currently, one-third of cases are diagnosed early through a family history …
Topics & Concepts
MedicineSevere combined immunodeficiencyNewborn screeningPediatricsBiomarkerImmunodeficiencyImmunologyGeneGeneticsImmune systemBiologyImmunodeficiency and Autoimmune DisordersImmune responses and vaccinationsTracheal and airway disorders