🚨 New #autoinflammation #vasculitis gene alert- courtesy of @fionapk.bsky.social ! Introducing FGR 🧬
We report 3x families with pathogenic variants in HCK (2x) and ✨ for the first time ✨ FGR (1x), expanding the new class of ‘autoinflammatory Src-opathies’ ⏬️
link.springer.com/article/10.1...
link.springer.com
Expanding the Spectrum of Src-Family Kinase-Related Autoinflammatory Diseases: Monogenic Vasculitis Caused By Germline Pathogenic Variants in HCK and FGR - Journal of Clinical Immunology
Journal of Clinical Immunology - The sarcoma (Src) family of non-receptor tyrosine kinases (SFKs) regulate innate immunity through their roles in signal transduction and cell migration, adhesion...