{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["53(4)"],"submitter":["Oo TM"],"pubmed_abstract":["VEXAS syndrome, an autoinflammatory syndrome due to a Ubiquitin Like Modifier Activating Enzyme 1 (UBA1) somatic mutation, has a high thrombotic burden. We report a case of a 69-year-old male that was diagnosed with VEXAS syndrome who developed venous thromboembolism (VTE). Review of literature of existing VEXAS syndrome cases showed a high thrombotic burden, with the reported incidence of VTE (36.4%) being markedly higher than arterial thrombosis (1.6%), with deep vein thrombosis being more common than pulmonary embolism. Somatic mutation in the UBA1 gene results in decreased ubiquitylation which is a key driver in the development of thrombosis in VEXAS syndrome, due to chronic inflammation and cytokine release from abnormal crosstalk between the intrinsic effector mechanism of innate imm"],"journal":["Journal of thrombosis and thrombolysis"],"pagination":["965-970"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8612112"],"repository":["biostudies-literature"],"pubmed_title":["Thrombosis in VEXAS syndrome."],"pmcid":["PMC8612112"],"pubmed_authors":["Lim XR","Oo TM","Koay JTJ","Lee SMS","Lee SF","Fan BE"],"additional_accession":[]},"is_claimable":false,"name":"Thrombosis in VEXAS syndrome.","description":"VEXAS syndrome, an autoinflammatory syndrome due to a Ubiquitin Like Modifier Activating Enzyme 1 (UBA1) somatic mutation, has a high thrombotic burden. We report a case of a 69-year-old male that was diagnosed with VEXAS syndrome who developed venous thromboembolism (VTE). Review of literature of existing VEXAS syndrome cases showed a high thrombotic burden, with the reported incidence of VTE (36.4%) being markedly higher than arterial thrombosis (1.6%), with deep vein thrombosis being more common than pulmonary embolism. Somatic mutation in the UBA1 gene results in decreased ubiquitylation which is a key driver in the development of thrombosis in VEXAS syndrome, due to chronic inflammation and cytokine release from abnormal crosstalk between the intrinsic effector mechanism of innate imm","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 May","modification":"2025-04-19T15:10:28.076Z","creation":"2022-02-11T13:09:18.532Z"},"accession":"S-EPMC8612112","cross_references":{"pubmed":["34817788"],"doi":["10.1007/s11239-021-02608-y"]}}