Figure 4.

Primary lymphocytes of STAT6 GOF patients display higher STAT6 activity and T_H2 skewing. (A) Histograms showing phosphorylation of STAT6 in healthy control (blue) and patient (red) LCLs that were stimulated with IL-4 (10 ng/ml) for 15 min, washed with PBS and subsequently incubated in IL-4–free media for 15, 30, and 60 min. Gating strategy for pSTAT6⁺ cells can be found in Fig. S4 C. (B) Quantification of pSTAT6⁺ cells from three separate experiments done in A, multiple unpaired t test corrected for multiple comparison using the Benjamini–Hochberg method. ***, P < 0.001. (C) Frequency of IL5⁺, IL13⁺, and IL4⁺ cells in memory CD4⁺ T cells of one representative patient, along with one representative healthy control. (D) Quantification of C showing IL5⁺, IL13⁺, and IL4⁺ cells in patients along with 15 age-matched healthy controls. **, P < 0.01; ***, P < 0.001. (E) Uniform manifold approximation and projection (UMAP) visualization of scRNAseq done on enriched T cells comparing one patient with one age-matched healthy control. (F) Dot plot showing expression of selected differentially expressed genes (adjusted P value < 0.05) observed in scRNAseq between patient and healthy control and associated with T cells, B cells, monocytes, or dendritic cells.