{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["37(7)"],"submitter":["Zhang J"],"pubmed_abstract":["<h4>Objective</h4>To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH).<h4>Methods</h4>Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigation, including family genetic screening and detections of immunological parameters (NK cell activity, CD107a degranulation and expression of HLH related defective protein), to evaluate the significance of these different indicators in the diagnosis of primary HLH and explore their correlations.<h4>Results</h4>The DNA mutations of the four families included missense mutation c.T172C (p.S58P) and non- frameshift deletions c.1083_1094del (p.361_365del), missense mutation c.C1349T (p.T4"],"journal":["Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi"],"pagination":["565-70"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7365012"],"repository":["biostudies-literature"],"pubmed_title":["[The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis]."],"pmcid":["PMC7365012"],"pubmed_authors":["Wei N","Wang YN","Wu L","Zhang J","Wang JS","Pei RJ","Gao Z","Fu L","Chen JH","Wang Z"],"additional_accession":[]},"is_claimable":false,"name":"[The significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis].","description":"<h4>Objective</h4>To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH).<h4>Methods</h4>Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigation, including family genetic screening and detections of immunological parameters (NK cell activity, CD107a degranulation and expression of HLH related defective protein), to evaluate the significance of these different indicators in the diagnosis of primary HLH and explore their correlations.<h4>Results</h4>The DNA mutations of the four families included missense mutation c.T172C (p.S58P) and non- frameshift deletions c.1083_1094del (p.361_365del), missense mutation c.C1349T (p.T4","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jul","modification":"2025-04-18T18:11:51.957Z","creation":"2020-11-19T13:30:09Z"},"accession":"S-EPMC7365012","cross_references":{"pubmed":["27535855"],"doi":["10.3760/cma.j.issn.0253-2727.2016.07.005"]}}