Figure S2.

Comprehensive immunological phenotyping of patient F1Pt reveals significant disruptions across T, B, and NK cell subsets . (a) Pie charts displaying the distribution of naïve T (CCR7+CD45RA+), TEM (CCR7CD45RA), T central memory (CCR7+CD45RA), and terminally differentiated T effector (CCR7CD45RA+) cells in CD8+ and CD4+ T cells of ATRIP patient (F1Pt) and HCs (n = 6). (b) Percentages of T and NK subsets in PBMCs of F1Pt and HCs (n = 6), based on manual gating of 25-parameter FCM data. Mean and SEM are shown. (c) Percentages of B and innate subsets in PBMCs of F1Pt and HCs (n = 6), based on manual gating of 25-parameter FCM data. Mean and SEM are shown. (d) Dotplot depicting signature genes defining the UMAP clusters shown in Fig. 3 a. (e) Circos plots showing the TRBV and TRAV pairing pattern of T cells of ATRIP patient (F1Pt) and HCs. (f) Frequency of unique T cell clones in F1Pt and HCs. (g) Distribution of the CDR3 region lengths of TCR-α and TCR-β clones of F1Pt and HCs T cells. (h) Circos plots demonstrating the IGH, IGK, and IGK pairing pattern of F1Pt and HCs B cells. (i) Frequency of unique B cell clones in F1Pt and HCs. (j) Distribution of the CDR3 region lengths of heavy and light chain of F1Pt and HCs B cells.

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