Epigenetic immune cell quantification for diagnostic evaluation and monitoring of patients with inborn errors of immunity and secondary immune deficiencies

Clin Immunol. 2024 Mar:260:109920. doi: 10.1016/j.clim.2024.109920. Epub 2024 Feb 1.


Background: 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.

Methods: 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.

Results: 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.

Conclusion: Epigenetic immune cell quantification is suitable for immune cell profiling in PID patients.

Keywords: Epigenetic quantification; Flow cytometry; Inborn errors of immunity; Primary immunodeficiencies; Secondary immunodeficiencies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Edetic Acid
  • Epigenesis, Genetic
  • Flow Cytometry
  • Humans
  • Lymphocyte Subsets*
  • T-Lymphocyte Subsets*


  • Edetic Acid