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

Borghesi, Alessandro; Trück, Johannes; Asgari, Samira; Sancho-Shimizu, Vanessa; Agyeman, Philipp K A; Bellos, Evangelos; Giannoni, Eric; Stocker, Martin; Posfay Barbe, Klara; Heininger, Ulrich; Bernhard-Stirnemann, Sara; Niederer-Loher, Anita; Kahlert, Christian R; Natalucci, Giancarlo; Relly, Christa; Riedel, Thomas; Kuehni, Claudia E; Thorball, Christian W; Chaturvedi, Nimisha; Martinon-Torres, Federico; Kuijpers, Taco W; Coin, Lachlan; Wright, Victoria; Herberg, Jethro; Levin, Michael; Aebi, Christoph; Berger, Christoph; Fellay, Jacques; Schlapbach, Luregn J; European Childhood Life-threatening Infectious Disease Study (EUCLIDS) Consortium; Swiss Paediatric Sepsis Study

doi:10.1093/cid/ciaa290

Scientific article

English

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

ContributorsBorghesi, Alessandro; Trück, Johannes; Asgari, Samira; Sancho-Shimizu, Vanessa; Agyeman, Philipp K A; Bellos, Evangelos; Giannoni, Eric; Stocker, Martin; Posfay Barbe, Klara; Heininger, Ulrich; Bernhard-Stirnemann, Sara; Niederer-Loher, Anita; Kahlert, Christian R; Natalucci, Giancarlo; Relly, Christa; Riedel, Thomas; Kuehni, Claudia E; Thorball, Christian W; Chaturvedi, Nimisha; Martinon-Torres, Federico; Kuijpers, Taco W; Coin, Lachlan; Wright, Victoria; Herberg, Jethro; Levin, Michael; Aebi, Christoph; Berger, Christoph; Fellay, Jacques; Schlapbach, Luregn J; European Childhood Life-threatening Infectious Disease Study (EUCLIDS) Consortium; Swiss Paediatric Sepsis Study

Published inClinical Infectious Diseases, vol. 71, no. 10, p. e614-e623

Publication date2020

Abstract

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.

Keywords

Adolescent
Child
Cohort Studies
Humans
Middle Aged
Primary Immunodeficiency Diseases
Prospective Studies
Sepsis/genetics
Whole Exome Sequencing

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

Research groups

Recherche en infectiologie pédiatrique et en pédiatrie générale (853)

Funding

Swiss National Science Foundation - Swiss Pediatric Sepsis Study - a national prospective cohort study to assess epidemiology, novel immunodeficiencies and the impact of genetic variation on susceptibility to sepsis in children [153158]
European Commission - The genetic basis of meningococcal and other life threatening bacterial infections of childhood [279185]

Citation (ISO format)

BORGHESI, Alessandro et al. Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study. In: Clinical Infectious Diseases, 2020, vol. 71, n° 10, p. e614–e623. doi: 10.1093/cid/ciaa290

Article (Published version)

CC BY-NC-ND

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Supplemental data

Identifiers

PID : unige:157728
DOI : 10.1093/cid/ciaa290
PMID : 32185379

Additional URL for this publicationhttps://academic.oup.com/cid/article/71/10/e614/5809292

Journal ISSN1058-4838

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Creation07/10/2021 16:04:00

First validation07/10/2021 16:04:00

Update28/02/2025 16:09:53

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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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