| HRA006768
(Open Access)
|
TEMPI syndrome is a rare multisystem disorder characterized by telangiectasias, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting, first described by Sykes and reported in the literature in a total of 29 patients. Regimens based on plasma cell-directed drugs have shown to be effective, suggesting a pathogenic role of the monoclonal antibody or the monoclonal plasma cell in the syndrome. Despite its clinical recognition, the molecular mechanisms driving the expansion of monoclonal plasma cells remain poorly understood. We performed whole genome sequencing and transcriptome analysis and single cell RNA-sequencing on one diagnosed case to investigate the mechanism. |
