Fig. 2
Analysis of the R688* proband peripheral blood mononuclear cells (PBMCs) reveals immune dysregulation. a FlowSOM tree of concatenated 29-parameter cytometry data of PBMCs obtained from seven HCs and the R688* proband. b Normalized data of the relative contribution of R688* proband PBMCs to each immune cell cluster. Percentage of R688* immune cells was normalized into a Z score based on HC mean and SD. Each cluster with a Z score > 2 (red) or <−2 (blue) was considered as a relevant immune cell population. Color of cluster number corresponds with panel a. c Clusters with a Z score > 2 (red) or <−2 (blue) were plotted onto FlowSOM tree. Color of cluster number corresponds with panel a. d, e Phenotypic description of overrepresented (d) and underrepresented (e) clusters in the R688* proband. Histograms depict expression profile of surface markers of given clusters (colored) compared with relevant immune cell populations (black). f Histogram representing ICOS expression on CD4+ T cells of a HC and R688* proband. Mean fluorescence is given. g Scatter dot plot of geometric mean fluorescence (gMFI) of ICOS in T cell subsets of HCs (n = 4) or proband. N: naive; EM: effector memory; Tfh: T follicular helper cell. h Histogram of OX40 expression on CD4+ T cells of a representative HC and R688* proband. Mean fluorescence is given. i Scatter dot plot of gMFI of OX40 in T cell subsets of HCs (n = 4) or R688* proband. Data shown in (a–i) are representative for two independent experiments. Source data are provided as a Source Data file
