ATRIP deficiency presents with a DNA repair signature, IFN -driven immune dysregulation, and impaired T cell proliferation. (a) Heatmap representing the top 10 enriched hallmark gene sets (MSigDB) in PBMCs of F1Pt compared to HCs (n = 3). (b) Volcano plot showing the differentially expressed genes in PBMCs of F1Pt compared to HCs (n = 3). (c) Heatmap displaying the serum concentration of the cytokines IL–10, IL–21, IL–18, IP–10, IL–6, IL–17A, IL–31, IFNγ, IL–27, MIP31, ICAM–1, IL-1RA, Eotaxin-3, IL–22, and IL–1β in HCs (n = 13) and F1Pt before and after treatment with anti-CD20 mAb. (d) CD169 and CD64 expression on CD14⁺ monocytes of HCs (n = 6) and F1Pt before and after treatment with anti-CD20 mAb (aCD20). Histograms of a representative HC and F1Pt are shown. Bar plots depict median fluorescence (MFI). Mean and SEM are shown. (e) LTT demonstrates the proliferative reponse of F1Pt whole blood to various stimuli. Data shows at least two independent analyses. (f) Proliferation analysis of CD8⁺ and CD4⁺ PHA blasts from HCs (n = 9) and F1Pt. PBMCs were labeled with CTV and stimulated with PHA for 96 h (dark grey or orange) or not stimulated (light grey, control). PF and PI of three independent experiments are depicted, with each data point representing one biological replicate. Mean and SD are shown. ns: not significant, *P < 0.05, ***P < 0.001, ****P < 0.0001 (multiple unpaired t tests).