Figure 3.

TCR oligoclonality in CD8 + T EM cells and altered CSR in absence of ATRIP. (a) CITE-seq profiling of PBMCs from HCs (n = 3) and ATRIP patient (F1Pt), identifying 25 immune subsets. UMAP visualization of pooled CITE-seq data of HCs and F1Pt, displaying the identified subsets (left). UMAP plot of HCs (middle, top) and F1Pt (middle, bottom). Ratio of the 25 subsets in HCs and F1Pt, ranked based on the prevalence in F1Pt (right). (b) Circos plots showing the TRBV and TRAV pairing pattern of CD8+ TEM cells of HCs and ATRIP patient (F1Pt). (c) Frequency of unique CD8+ TEM cell clones in HCs and F1Pt. (d) Distribution of the CDR3 region lengths of TCR-α and TCR-β clones from HCs and F1Pt CD8+ TEM cells. (e) Frequency of CSR junctions per S region in HCs (n = 3) (junctions; n = 8,305) and F1Pt (junctions; n = 2,758). Mean and SD are shown. (f) Proportion of non-productive junctions (inversional recombination) per S region in HCs (n = 3) (junctions; n = 652) and F1Pt (junctions; n = 225). Mean and SD are shown. (g) Pie charts demonstrating the microhomology usage at Sμ–Sα junctions in HCs (n = 3) and F1Pt. Data represent one experiment (a–g).

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