Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and...
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
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Author / Creator
Genomics England Research Consortium , Wang, Lin , Aschenbrenner, Dominik , Zeng, Zhiyang , Cao, Xiya , Mayr, Daniel , Mehta, Meera , Capitani, Melania , Warner, Neil , Pan, Jie , Wang, Liren , Li, Qi , Zuo, Tao , Cohen-Kedar, Sarit , Lu, Jiawei , Ardy, Rico Chandra , Mulder, Daniel J. , Dissanayake, Dilan , Peng, Kaiyue , Huang, Zhiheng , Li, Xiaoqin , Wang, Yuesheng , Wang, Xiaobing , Li, Shuchao , Bullers, Samuel , Gammage, Anís N. , Warnatz, Klaus , Schiefer, Ana-Iris , Krivan, Gergely , Goda, Vera , Kahr, Walter H. A. , Lemaire, Mathieu , Lu, Chien-Yi , Siddiqui, Iram , Surette, Michael G. , Kotlarz, Daniel , Engelhardt, Karin R. , Griffin, Helen R. , Rottapel, Robert , Decaluwe, Hélène , Laxer, Ronald M. , Proietti, Michele , Hambleton, Sophie , Elcombe, Suzanne , Guo, Cong-Hui , Grimbacher, Bodo , Dotan, Iris , Ng, Siew C. , Freeman, Spencer A. , Snapper, Scott B. , Klein, Christoph , Boztug, Kaan , Huang, Ying , Li, Dali , Uhlig, Holm H. and Muise, Aleixo M.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Spleen tyrosine kinase (SYK) is a critical immune signaling molecule and therapeutic target. We identified damaging monoallelic
SYK
variants in six patients with immune deficiency, multi-organ inflammatory disease such as colitis, arthritis and dermatitis, and diffuse large B cell lymphomas. The SYK variants increased phosphorylation and enha...
Alternative Titles
Full title
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
Authors, Artists and Contributors
Author / Creator
Wang, Lin
Aschenbrenner, Dominik
Zeng, Zhiyang
Cao, Xiya
Mayr, Daniel
Mehta, Meera
Capitani, Melania
Warner, Neil
Pan, Jie
Wang, Liren
Li, Qi
Zuo, Tao
Cohen-Kedar, Sarit
Lu, Jiawei
Ardy, Rico Chandra
Mulder, Daniel J.
Dissanayake, Dilan
Peng, Kaiyue
Huang, Zhiheng
Li, Xiaoqin
Wang, Yuesheng
Wang, Xiaobing
Li, Shuchao
Bullers, Samuel
Gammage, Anís N.
Warnatz, Klaus
Schiefer, Ana-Iris
Krivan, Gergely
Goda, Vera
Kahr, Walter H. A.
Lemaire, Mathieu
Lu, Chien-Yi
Siddiqui, Iram
Surette, Michael G.
Kotlarz, Daniel
Engelhardt, Karin R.
Griffin, Helen R.
Rottapel, Robert
Decaluwe, Hélène
Laxer, Ronald M.
Proietti, Michele
Hambleton, Sophie
Elcombe, Suzanne
Guo, Cong-Hui
Grimbacher, Bodo
Dotan, Iris
Ng, Siew C.
Freeman, Spencer A.
Snapper, Scott B.
Klein, Christoph
Boztug, Kaan
Huang, Ying
Li, Dali
Uhlig, Holm H.
Muise, Aleixo M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8245161
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8245161
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/s41588-021-00803-4
