Biallelic mutations in IRF8 impair human NK cell maturation and function
Biallelic mutations in IRF8 impair human NK cell maturation and function
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Full title
Author / Creator
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 and Orange, Jordan S
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 interfer...
Alternative Titles
Full title
Biallelic mutations in IRF8 impair human NK cell maturation and function
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5199714
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5199714
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI86276
