Biallelic mutations in IRF8 impair human NK cell maturation and function

Human NK cell deficiencies are rare yet result in severe and often fatal disease, particularly as a result of viral susceptibility. NK cells develop from hematopoietic stem cells, and few monogenic errors that specifically interrupt NK cell development have been reported. Here we have described bial...

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Udgivet i:J Clin Invest
Main Authors: Mace, Emily M., Bigley, Venetia, Gunesch, Justin T., Chinn, Ivan K., Angelo, Laura S., Care, Matthew A., Maisuria, Sheetal, Keller, Michael D., Togi, Sumihito, Watkin, Levi B., LaRosa, David F., Jhangiani, Shalini N., Muzny, Donna M., Stray-Pedersen, Asbjørg, Coban Akdemir, Zeynep, Smith, Jansen B., Hernández-Sanabria, Mayra, Le, Duy T., Hogg, Graham D., Cao, Tram N., Freud, Aharon G., Szymanski, Eva P., Savic, Sinisa, Collin, Matthew, Cant, Andrew J., Gibbs, Richard A., Holland, Steven M., Caligiuri, Michael A., Ozato, Keiko, Paust, Silke, Doody, Gina M., Lupski, James R., Orange, Jordan S.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2016
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5199714/
https://ncbi.nlm.nih.gov/pubmed/27893462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI86276
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