Single-Cell RNA Seq in Sydenham Chorea Shows B Cell HLA-DR/DQ Upregulation and Plasma Cell Proteasomal Activation.

ABSTRACT: The pathogenesis of Sydenham chorea remains unclear. We report a 10-year-old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single-cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex-matched controls revealed nine immune cell clusters. We found up-regulated antigen processing pathways in B cells, monocytes, and eosinophils, enriched by HLA genes, particularly HLA-DRB5 and HLA-DQB1, and immunoglobulin (IGH) genes in B cells. Up-regulated proteasomal pathways in plasma cells were enriched by PSM genes. These insights support the B cell-mediated autoantibody hypothesis in Sydenham chorea. We highlight the potential of scRNA-seq in rare diseases to inform targeted therapies.

SUBMITTER: Han VX 

PROVIDER: S-EPMC12623827 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature