Publication

Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study

Jacques Fellay, Christian Axel Wandall Thorball, Alessandro Borghesi, Nimisha Chaturvedi, Samira Asgari
2020
Journal Articles

Abstract

Background. The role of primary immunodeficiencies (PID) in susceptibility to sepsis remains unknown. It is unclear whether children with sepsis benefit from genetic investigations. We hypothesized that sepsis may represent the first manifestation of underlying PID. We applied whole-exome sequencing (WES) to a national cohort of children with sepsis to identify rare, predicted pathogenic variants in PID genes.

Official source

https://infoscience.epfl.ch/entities/publication/eeb5ba7f-bc67-4c3c-8e7a-cfef0568b952

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Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study

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