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

Cytotoxic lymphocyte pore-forming protein termed perforin-1 (PFP) produced by NK and CD8 T cells plays a critical role in viral and tumor-related immunity. Deleterious mutations in the gene encoding PFP lead to its dysfunction and impaired cytotoxic activity, causing hemophagocytic lymphohistiocytosis. Familial hemophagocytic lymphohistiocytosis type 2 is a rare, life-threatening, hyperinflammatory disorder that predominantly affects infants and children.

'Nomadic' Hematopoietic Stem Cells Navigate the Embryonic Landscape.

Hematopoietic stem cells are a unique population of tissue-resident multipotent cells with an extensive ability to self-renew and regenerate the entire lineage of differentiated blood cells. Stem cells reside in a highly specialized microenvironment with surrounding supporting cells, forming a complex and dynamic network to preserve and maintain their function. The survival, activation, and quiescence of stem cells are largely influenced by niche-derived signals, with aging niche contributing to a decline in stem cell function.