{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(2)"],"submitter":["Reiff DD"],"pubmed_abstract":["Hemophagocytic lymphohistiocytosis (HLH) is a syndrome resulting from uncontrolled hyper-inflammation, excessive immune system activation, and elevated levels of inflammatory cytokines. HLH can be caused by the inability to downregulate activated macrophages by natural killer (NK) and CD8 cytotoxic T cells through a process reliant on perforin and granzyme B to initiate apoptosis. Homozygous genetic mutations in this process result in primary HLH (pHLH), a disorder that can lead to multi-system organ failure and death in infancy. Heterozygous, dominant-negative, or monoallelic hypomorphic mutations in these same genes can cause a similar syndrome in the presence of an immune trigger, leading to secondary HLH (sHLH). A genetic mutation in a potential novel HLH-associated gene, dedicator of "],"journal":["Life (Basel, Switzerland)"],"pagination":["434"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9962445"],"repository":["biostudies-literature"],"pubmed_title":["<i>DOCK2</i> Mutation and Recurrent Hemophagocytic Lymphohistiocytosis."],"pmcid":["PMC9962445"],"pubmed_authors":["Reiff DD","Cron RQ","Zhang M"],"additional_accession":[]},"is_claimable":false,"name":"<i>DOCK2</i> Mutation and Recurrent Hemophagocytic Lymphohistiocytosis.","description":"Hemophagocytic lymphohistiocytosis (HLH) is a syndrome resulting from uncontrolled hyper-inflammation, excessive immune system activation, and elevated levels of inflammatory cytokines. HLH can be caused by the inability to downregulate activated macrophages by natural killer (NK) and CD8 cytotoxic T cells through a process reliant on perforin and granzyme B to initiate apoptosis. Homozygous genetic mutations in this process result in primary HLH (pHLH), a disorder that can lead to multi-system organ failure and death in infancy. Heterozygous, dominant-negative, or monoallelic hypomorphic mutations in these same genes can cause a similar syndrome in the presence of an immune trigger, leading to secondary HLH (sHLH). A genetic mutation in a potential novel HLH-associated gene, dedicator of ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-25T23:10:20.106Z","creation":"2025-04-06T09:17:53.819Z"},"accession":"S-EPMC9962445","cross_references":{"pubmed":["36836791"],"doi":["10.3390/life13020434"]}}