Immunophenotyping of circulating patients’ cells and cytokine signatures. (A) Representative UMAP plots were generated from immunophenotyping CyTOF data of whole blood from adult controls (n = 4), pediatric controls (n = 5), and patients’ cells (B1, C1, D1 and F1). At the day of prelevement, the B1 patient is considered as pediatric (9 years old) while patients C1, D1, and F1 were adults (22, 26, and 20 years old, respectively). pDC: plasmacytoid dendritic cell; mDC: myeloid dendritic cell; CM: central memory; EM: effector memory; TEM: terminal effector memory; TEMRA: terminally differentiated effector memory; MAIT: mucosal-associated invariant T cell; GD: gamma delta. (B) Quantification of immune cell populations in adult (n = 4) or pediatric (n = 5) control or patient (B1, C1, D1 and F1) groups. Patient’s age group is indicated on the graph’s legend (A: adult; P: pediatric). P values were obtained using Kristal–Wallis test: <0.0332 (*), 0.1234 (ns). (C) Heatmap of cytokine dosage in plasma of HCs (n = 7) and patients with STAT1 GOF (n = 3), STAT3 GOF (n = 2), SOCS1 LOF (n = 3), and PTPN2 mutation (n = 5). Z-score of log10 cytokine levels normalized to HC mean. D1 received corticoids and B1 Imurel before sampling.