Article
Biallelic mutations in IRF8 impair human NK cell maturation and function.
The Journal of clinical investigation - 3 Jan 2017
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
Abstract excerpt
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 biallelic mutations in IRF8, which encodes an interferon regulatory factor, as a cause of familial NK cell deficiency...
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