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| http://dx.doi.org/10.1016/j.asjsur.2024.04.013 | DOI Listing |
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Molecular dynamics simulations of perforin mutations associated with familial hemophagocytic lymphohistiocytosis type 2 among Indian patients.
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Gene Therapy Laboratory, Department of Integrative Biology, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632 014, TN, India. Electronic address:
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.
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