Severe viral respiratory infections in children with IFIH1 loss-of-function mutations

著者: Samira Asgari, Luregn J. Schlapbach, Stéphanie Anchisi, Christian Hammer, István Bartha, Thomas Junier, Geneviève Mottet-Osman, Klara M. Posfay‐Barbe, David Longchamp, Martin Stocker, Samuel Cordey, Laurent Kaiser, Thomas Riedel, Tony Kenna, Deborah Long, Andreas Schibler, Amalio Telenti, Caroline Tapparel, Paul J. McLaren, Dominique Garcin, Jacques Fellay - Proceedings of the National Academy of Sciences, PNAS 2017 被引用: 160

Significance Life-threatening susceptibility to common respiratory infections in previously healthy children can be indicative of pathogen-specific primary immunodeficiencies due to rare deleterious variants in key genes and pathways of the immune system. These findings have implications for prevention and treatment of susceptible children.