A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

doi:10.1007/s10875-024-01774-x

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A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

Journal of clinical immunology - 5 Aug 2024

Huynh Aimee, Gray Paul E, Sullivan Anna, Mackie Joseph, Guerin Antoine, Rao Geetha, Pathmanandavel Karrnan, Mina Erika Della, Hollway Georgina, Hobbs Matthew, Enthoven Karen, O'Young Patrick, McManus Sam, Wainwright Luke H, Higgins Megan, Noon Fallon, Wong Melanie, Bastard Paul, Zhang Qian, Casanova Jean-Laurent, Hsiao Kuang-Chih, Pinzon-Charry Alberto, Ma Cindy S, Tangye Stuart G

Abstract excerpt

Advanced genomic technologies such as whole exome or whole genome sequencing have improved diagnoses and disease outcomes for individuals with genetic diseases. Yet, variants of unknown significance (VUS) require rigorous validation to establish disease causality or modification, or to exclude them from further analysis. Here, we describe a young individual of Polynesian ancestry who in the first 13 mo of life...

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A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.

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