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.

中文翻译：

---

表观遗传免疫细胞定量用于先天性免疫缺陷和继发性免疫缺陷患者的诊断评估和监测

人类原发性免疫缺陷 (PID) 的早期检测和监测需要通过流式细胞术对新鲜血液中的免疫细胞进行定量测定。然而，表观遗传免疫细胞定量可以对新鲜、冷冻或干燥的血液样本进行分析。我们展示了表观遗传免疫细胞定量对 PID 患者的实用性。将来自 PID 患者的 259 个样本的基本淋巴细胞亚群的表观遗传定量与流式细胞术数据进行比较。表观遗传分析扩展到 T 细胞亚群（Treg、Th17、Tfh、PD-1+、CCR6+）和记忆 B 细胞，并在静脉 EDTA 和干血之间进行比较。基本 T 细胞和 B 细胞亚群的相关性高达 >0.9。扩展的表观遗传分析显示了 PID 亚组内的定量趋势，但这些趋势在这些组内个体差异很大。干燥血液样本的表观遗传学分析相当于 EDTA 血液。表观遗传免疫细胞定量适用于 PID 患者的免疫细胞分析。