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Updated: Dec 23, 2025
Simultaneous Assessment of Kinship, Division Number, and Phenotype via Flow Cytometry for Hematopoietic Stem and Progenitor Cells
Published on: March 24, 2023
Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry
Tomonori Kadowaki1, Hidenori Ohnishi2, Norio Kawamoto2
1Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan; Department of Pediatrics, National Hospital Organization, Nagara Medical Center, Gifu, Japan.
Haploinsufficiency of A20 (HA20) leads to inflammatory conditions. This study reveals distinct changes in T cell subsets, with increased double-negative T cells (DNTs) in adults and follicular helper T cells (TFHs) in younger HA20 patients, potentially driving autoimmunity.
Area of Science:
- Immunology
- Genetics
- Rheumatology
Background:
- Haploinsufficiency of A20 (HA20) is an inflammatory disease.
- HA20 shares clinical similarities with Behçet's disease.
- Autoimmune complications are observed in some HA20 patients.
Purpose of the Study:
- To elucidate the immunophenotype of HA20 patients.
- To analyze lymphocyte subsets in HA20 patients using multicolor flow cytometry.
- To compare HA20 patient cell subpopulations with age-matched controls.
Main Methods:
- Analysis of lymphocyte subsets via multicolor flow cytometry.
- Quantification of 27 parameters, including regulatory T cells (Tregs), double-negative T cells (DNTs), and follicular helper T cells (TFHs).
- Comparison of patient data with reference values across four age groups (0-1, 2-6, 7-19, ≥20 years).
Main Results:
- Regulatory T cells (Tregs) showed age-dependent increases, similar to controls.
- Increased double-negative T cells (DNTs) were observed in HA20 patients aged ≥20 years.
- Significantly elevated follicular helper T cells (TFHs) were found in younger HA20 patients.
Conclusions:
- Altered T cell populations, specifically DNTs and TFHs, are characteristic of HA20.
- These immunophenotypic changes may contribute to the pathogenesis of autoimmune diseases in HA20 patients.
