Fig. 3: DNA repair biomarkers in PBMCs. | European Journal of Human Genetics

Fig. 3: DNA repair biomarkers in PBMCs.

From: XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

Fig. 3

A Cellular sensitivity of peripheral T lymphocytes to increasing doses of ionizing radiations in patient 1 (P1), patient 2 (P2) and parents. Mean IR sensitivity of cells from 17 healthy controls (Ctl), 6 patients with LIG4 mutations, and 31 patients with ATM mutations are included for comparison. B Quantification of CD161 negative T lymphocytes expressing TCR-Vα7.2 through flow cytometry. C Hierarchical clustering of PROMIDISα signatures by principal component analysis (PCA). VDJ: patients with VDJ/DNA repair deficiency (n = 18, including 5 DCLRE1C, 3 LIG4, 4 Cernunnos/XLF, 2 PRKDC, 4 RAG1), HC: Healthy controls (n = 24), AT: Ataxia telangiectasia patients (n = 34). P1 and P2: red arrows. Mother and father: green arrows.

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