Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

doi:10.1007/s10875-021-01183-4

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Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal of clinical immunology - 1 Feb 2022

Kernan Kate F, Ghaloul-Gonzalez Lina, Vockley Jerry, Lamb Janette, Hollingshead Deborah, Chandran Uma, Sethi Rahil, Park Hyun-Jung, Berg Robert A, Wessel David, Pollack Murray M, Meert Kathleen L, Hall Mark W, Newth Christopher J L, Lin John C, Doctor Allan, Shanley Tom, Cornell Tim, Harrison Rick E, Zuppa Athena F, Banks Russel, Reeder Ron W, Holubkov Richard, Notterman Daniel A, Dean J Michael, Carcillo Joseph A

Abstract excerpt

PURPOSE: Our understanding of inborn errors of immunity is increasing; however, their contribution to pediatric sepsis is unknown. METHODS: We used whole-exome sequencing (WES) to characterize variants in genes related to monogenic immunologic disorders in 330 children admitted to intensive care for severe sepsis. We defined candidate variants as rare variants classified as pathogenic or potentially pathogenic in...

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Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

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