Figure 1.

A scRNA-seq cohort of PBMCs from five SAVI patients shows loss of effector cells not replicated by challenging healthy PBMCs with IFN-β

(A) Description of the SAVI dataset: five SAVI patients, with three different STING mutations sampled before (SAVI) and under JAK inhibitor treatment (SAVI_treated), and seven healthy donors (CTRLs). Ruxo, ruxolitinib; Tofa, tofacitinib; yo, years old.

(B) Description of the IFN-β dataset.

(C) UMAP and cell type assignment of all 112,060 cells from the SAVI dataset (top) dataset separated by group (bottom).

(D) UMAP and cell type assignment of all 115,503 cells from the IFN-β dataset (top) and separated by time of IFN-β stimulation (bottom).

(E) Boxplot of the proportion of PBMCs found in several clusters of the SAVI dataset. p values are calculated by the Kruskal-Wallis test for multiple comparisons, followed by a post hoc Dunn’s test. ∗p < 0.05, ∗∗p < 0.01, ∗∗∗p < 0.001.

(F) Evolution of the proportion of PBMCs found in several clusters in the IFN-β dataset.

(C and D) nCD4, naive CD4; eCD4, effector CD4; nCD8, naive CD8; eCD8, effector CD8.