CD16+ monocytes are involved in the hyper-inflammatory state of Prader-Willi Syndrome by single-cell transcriptomic analysis

• DOI: 10.3389/fimmu.2023.1153730
• Publication Date: 2023-05-12T07:10:49Z
• Authors: Yunyun Xu; Xu Hou; Honglin Guo; Zhenyu Yao; Xiude Fan; Chao Xu; Guimei Li; Yanzhou Wang; Yan Sun; Ling Gao; Yongfeng Song; Jiajun Zhao
• Keywords: Mass cytometry; CD16; Monocyte

Patients with Prader-Willi syndrome (PWS) have a reduced life expectancy due to inflammation-related disease including cardiovascular and diabetes. Abnormal activation of peripheral immune system is postulated as contributor. However, detailed features the cells in PWS not been fully elucidated.Serum inflammatory cytokines were measured healthy controls (n=13) patients (n=10) using 65- multiplex cytokine assays. Changes was assessed by single-cell RNA sequencing (scRNA-seq) high-dimensional mass cytometry (CyTOF) blood mononuclear (PBMCs) from (n=6) (n=12).PWS exhibited hyper-inflammatory signatures PBMCs monocytes most pronounced. Most serum increased PWS, IL-1β, IL-2R, IL-12p70, TNF-α. The characteristics evaluated scRNA-seq CyTOF showed that CD16+ significantly patients. Functional pathway analysis revealed upregulated pathways closely associated TNF/IL-1β- driven inflammation signaling. CellChat identified transmitted chemokine signaling drive process other cell types. Finally, we explored deletion region 15q11-q13 might be responsible for elevated levels system.The study highlights contributor state which provides potential targets immunotherapy future expands our knowledge at single level first time.