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

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...

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Autores principales: Borghesi, Alessandro, Trück, Johannes, Asgari, Samira, Sancho-Shimizu, Vanessa, Agyeman, Philipp K A, Bellos, Evangelos, Giannoni, Eric, Stocker, Martin, Posfay-Barbe, Klara M, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Online Only Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744985/
https://www.ncbi.nlm.nih.gov/pubmed/32185379
http://dx.doi.org/10.1093/cid/ciaa290

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