Figure 3. POLA1 deficiency affects NK cell maturation and direct cytotoxicity.

(A) Flow cytometry quantification of the CD56^dim/CD56^bright ratio in peripheral NK cells is significantly affected in XLPDR patients (P1–P5) compared with unaffected control (UA1–UA7, UA10, UA11). Horizontal bars represent the mean; error bars correspond to the SD; *P < 0.02 by Student’s 2-tailed t test. Data are the aggregate of 5 independent experiments. (B) Representative flow cytometry plots of white blood cell subpopulations in an unaffected individual (UA2) and an XLPDR patient (P1). CD56^dim (stage V) NK cell subsets are highlighted by red rectangles. (C) Flow cytometry–based quantification of stage V CD56^dim NK cells in unaffected individuals (UA4–UA7, U10, UA11) and XLPDR patients (P1–P5). Horizontal bars represent the mean; error bars correspond to the SD; *P < 0.04 by Student’s 1-tailed t test. Data are the aggregate of 2 independent experiments. (D) Flow cytometry–based quantification of stage VI CD57⁺ NK cells in unaffected individuals (UA1–UA4) and XLPDR patients (P1, P2, P4, P5). Horizontal bars represent the mean; error bars correspond to the SD; *P < 0.03 by Student’s 2-tailed t test. Data are the representative image of 3 independent experiments. (E) FACS analysis of CD56⁺CD3^– NK cells depicting representative CD57 surface expression in an XLPDR proband (P4, P5) compared with an unaffected control (UA4).