{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["44(3)"],"submitter":["Pernaa N"],"funding":["University of Oulu"],"pubmed_abstract":["Myocarditis can be caused by viral infection, drug reaction or general inflammatory condition. To provide understanding on inflammatory myocarditis, we describe clinical, genetic, and immunological properties of a young male patient who suffered from recurrent myocarditis episodes since the age of four years. Electrocardiography, troponin I/T, echocardiography, myocardial magnetic resonance imaging and histological findings were consistent with recurrent myocarditis episodes. Homozygous c.245 A > G p.Tyr82Cys pathogenic variant in Hepatitis A Virus Cellular Receptor 2 (HAVCR2) gene encoding T cell immunoglobulin and mucin domain-containing protein 3 (TIM-3) receptor was found. Peripheral blood mononuclear cells were collected when the patient was asymptomatic; CD4<sup>+</sup> and CD8<sup>+"],"journal":["Journal of clinical immunology"],"pagination":["81"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10940375"],"repository":["biostudies-literature"],"pubmed_title":["Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis."],"pmcid":["PMC10940375"],"pubmed_authors":["Kaikkonen K","Vakkuri A","Junttila J","Pernaa N","Lantto U","Santaniemi W","Arvonen M","Glumoff V","Hautala T","Kerkela R","Okkonen M","Astrom P","Lappi-Blanco E","Kuismin O"],"additional_accession":[]},"is_claimable":false,"name":"Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.","description":"Myocarditis can be caused by viral infection, drug reaction or general inflammatory condition. To provide understanding on inflammatory myocarditis, we describe clinical, genetic, and immunological properties of a young male patient who suffered from recurrent myocarditis episodes since the age of four years. Electrocardiography, troponin I/T, echocardiography, myocardial magnetic resonance imaging and histological findings were consistent with recurrent myocarditis episodes. Homozygous c.245 A > G p.Tyr82Cys pathogenic variant in Hepatitis A Virus Cellular Receptor 2 (HAVCR2) gene encoding T cell immunoglobulin and mucin domain-containing protein 3 (TIM-3) receptor was found. Peripheral blood mononuclear cells were collected when the patient was asymptomatic; CD4<sup>+</sup> and CD8<sup>+","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-22T15:34:46.021Z","creation":"2025-02-19T04:42:12.089Z"},"accession":"S-EPMC10940375","cross_references":{"pubmed":["38485795"],"doi":["10.1007/s10875-024-01685-x"]}}