Molecular dynamics of perforin mutations associated with familial hemophagocytic lymphohistiocytosis type 2 among Indian patients

Perforin-1 produced by NK and CD8+ T cells plays a critical role in viral and tumor-related immunity. Deleterious mutations in the gene encoding perforin lead to its dysfunction and impaired cytotoxic activity, causing HLH. Twelve highly conserved pathogenic mutations reported among Indian patients were analyzed using MD and it's raw data is being depicted here.