Investigating penetrance of severe combined immunodeficiency variants in an adult population cohort: implications for genomic newborn screening

2026-02-18 genetic and genomic medicine Title + abstract only

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Severe combined immunodeficiency (SCID) is a heterogeneous, recessive disorder, associated with the onset of severe, recurrent infections in the first few months of life. SCID is fatal if left untreated, but outcomes can be significantly improved by prompt diagnosis and treatment, particularly prior to onset of infection. Consequently, SCID is already included in many newborn screening programmes around the world, as well as multiple international genomic newborn screening (gNBS) research progra...

Investigating penetrance of severe combined immunodeficiency variants in an adult population cohort: implications for genomic newborn screening

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