A gain-of-function variation in PLCG1 causes a new immune dysregulation disease
Panfeng Tao, Xu Han, Qintao Wang, Shihao Wang, Jiahui Zhang, Lin Liu, Xiaorui Fan, Chenlu Liu, Meng Liu, Li Guo, Pui Y. Lee, Ivona Aksentijevich, Qing Zhou
Topics & Concepts
Immune dysregulationGain of functionImmune systemVariation (astronomy)DiseaseFunction (biology)ImmunologyMedicineBiologyGeneticsMutationInternal medicineGenePhysicsAstrophysicsNF-κB Signaling PathwaysInflammasome and immune disordersCell death mechanisms and regulation