|  Help  |  About  |  Contact Us

Publication : Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.

First Author  Wang L Year  2021
Journal  Nat Genet Volume  53
Issue  4 Pages  500-510
PubMed ID  33782605 Mgi Jnum  J:305203
Mgi Id  MGI:6705760 Doi  10.1038/s41588-021-00803-4
Citation  Wang L, et al. (2021) Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet 53(4):500-510
abstractText  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 enhanced downstream signaling, indicating gain of function. A knock-in (SYK-Ser544Tyr) mouse model of a patient variant (p.Ser550Tyr) recapitulated aspects of the human disease that could be partially treated with a SYK inhibitor or transplantation of bone marrow from wild-type mice. Our studies demonstrate that SYK gain-of-function variants result in a potentially treatable form of inflammatory disease.
Quick Links:
 
Quick Links:
 

Expression

Publication --> Expression annotations

 

Other

2 Bio Entities

Trail: Publication

0 Expression