Expanding the Spectrum of Src-Family Kinase-Related Autoinflammatory Diseases: Monogenic Vasculitis Caused By Germline Pathogenic Variants in HCK and FGR.

Abstract excerpt

The sarcoma (Src) family of non-receptor tyrosine kinases (SFKs) regulate innate immunity through their roles in signal transduction and cell migration, adhesion and proliferation. Germline pathogenic variants in this key kinase group are rare but increasingly recognised as causes of autoinflammatory disease. We identified three unrelated kindreds with SFK-associated vasculitis. In Family A, we report a child...

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• Germ-Line Mutation
• Hereditary Autoinflammatory Diseases
• Infant, Newborn
• Mutation, Missense