VEXAS syndrome could be revealed by unusual infectious manifestations. Dear Editor, In late 2020, Beck et al. described a series of 25 cases of old men with characteristic late-onset treatment-refractory inflammatory syndrome and haematologic pathology, which were caused by somatic mutations of methionine-41 (p.Met-41) in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene, which encodes ubiquitylation-initiating E1 enzyme, located on the X chromosome [1]. Clinical manifestations included recurrent fevers, cutaneous inflammation, relapsing polychondritis, vasculitis, pulmonary infiltrates, cytopenia, bone marrow dysplasia and lipid vacuoles in the bone marrow. Subsequently, Obiorah et al. reported a series of 15...
No takes yet. Share an insight, caveat, or question.
Oganesyan et al. (2021) studied this question.
Synapse has enriched 5 related papers. Consider them for comparative context: