Figure S1.
Panel A shows flow cytometry dot plots, histograms, and marker table analyzing circulating B-cell subsets in healthy control and patient P6. Dot plots display CD27 PerCP-Cy5.5 versus IgD FITC, CD24 PE-Cy7 versus CD38 APC, CD21 PE versus CD38 APC, and CD45 V500-C versus SSC axes identifying naive B cells, switched memory B cells, unswitched memory B cells, transitional B cells, plasmablasts, and CD21lo B cells. Histograms show CD19 APC-H7-positive B-cell populations, while the marker table lists fluorochromes used for CD45, IgD, CD21, CD27, CD24, CD38, and CD19 detection. Patient P6 demonstrates increased switched and unswitched memory B cells, increased plasmablasts, and reduced transitional B cells compared with healthy control. Panel B shows flow cytometry dot plots and marker table analyzing circulating T-cell subsets in healthy control and patient P6. Dot plots display CCR7 PE versus CD45RO APC for CD4 and CD8 T cells, and CD8 FITC versus CD4 APC-H7 for total T-cell populations, identifying naive, central memory, effector memory, and terminally differentiated effector memory T-cell subsets. The marker table lists fluorochromes used for CD45, CD8, CCR7, CD3, CD45RA, CD45RO, and CD4 detection. Healthy control and patient P6 show broadly similar distributions of circulating CD4 and CD8 T-cell subsets.
Markers and gating strategy for B and T cell immunophenotyping. (A) Representative FCM dot plots illustrating the analysis of B cell subsets in patient P6 (5 years) compared with an age-matched healthy control. P6 displays increased frequencies of switched and unswitched memory B cells, as well as plasmablasts, alongside a marked reduction in transitional B cells. (B) Analysis of T cell subsets in P6 did not reveal significant differences compared with the healthy control. CM, central memory; DN, double-negative; DPT, double-positive T cells; EM, effector memory; sm, switched memory; TEMRA, terminally differentiated effector memory T cells re-expressing CD45RA; unsm, unswitched memory.