表观遗传学
免疫系统
免疫学
流式细胞术
生物
淋巴细胞
免疫
遗传学
基因
作者
Neftali Jose Ramirez,Janika Schulze,Steffi Walter,Jeannette Werner,Pavla Mrovecova,Sven Olek,Christoph Sachsenmaier,Bodo Grimbacher,Ulrich Salzer
标识
DOI:10.1016/j.clim.2024.109920
摘要
Early detection and monitoring of primary immunodeficiencies (PID) in humans require quantitative determination of immune cells from fresh blood analyzed by flow cytometry. However, epigenetic immune cell quantification allows analysis from fresh, frozen, or dried blood samples. We demonstrate the utility of epigenetic immune cell quantification for patients with PID. Epigenetic quantification of basic lymphocyte subpopulations of 259 samples from PID patients were compared to flow cytometric data. Epigenetic analysis was extended to T-cell subsets (Treg, Th17, Tfh, PD-1+, CCR6+) and memory B-cells and compared between venous EDTA and dried blood. A high correlation of >0.9 was observed for basic T- and B-cell subsets. Extended epigenetic analysis showed quantitative trends within PID subgroups, but individually these varied substantially within these groups. Epigenetic analysis of dried blood samples was equivalent to EDTA blood. Epigenetic immune cell quantification is suitable for immune cell profiling in PID patients.
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