Article
Detection of interferon alpha and beta receptor subunit 1 (IFNAR1) loss-of-function Glu386∗ variant by tri-allelic genotyping.
Pathology - 1 Feb 2024
Woon See-Tarn, Tjandra Felicia, Mackay John, Lumley Thomas, Grainger Pippa, Wood Andrew, Hsiao Kuang-Chih, Ameratunga Rohan
Abstract excerpt
Mutations of the human interferon alpha and beta receptor subunit 1 (IFNAR1) gene are associated with severe viral infections. Individuals homozygous for the Glu386∗ variant have impaired type I interferon signalling and can suffer severe illness when exposed to certain viruses and live attenuated virus vaccines. Glu386∗ heterozygotes are clinically unaffected, but can pass the variant allele to their...
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