Moreover, IL1 signaling pathway, known to be involved in cytotoxicity activation especially through IL18-IL18R1/IL18RAP ligand–receptor interaction40, was also observed exclusively in SMA_baseline but not in Control, indicating IL-18 signaling as a potential underlying recruiting mechanism of inducing cytotoxic immune responses in SMA. The gene discussed is IL18R1; the disease is proximal spinal muscular atrophy.