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 KA
- Bellos, Evangelos
- Giannoni, Eric
- Stocker, Martin
- Posfay-Barbe, Klara M
- Heininger, Ulrich
- Bernhard-Stirnemann, Sara
- Niederer-Loher, Anita
- Kahlert, Christian R
- Natalucci, Giancardlo
- 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
DOIAbstract
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. METHODS Multicenter population-based prospective study including previously healthy children ≥28 days and <17 years admitted with blood culture-proven sepsis. Using a stringent variant filtering procedure, analysis of WES data was restricted to rare, predicted pathogenic variants in 240 PID genes for which increased susceptibi...
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