Cellular deficiencies and neurological manifestations in family 1. (A) Peripheral blood hemoglobin (Hb), platelet, neutrophil (Neutro.), and monocyte (Mono.) counts as well as (B) lymphocyte subset counts in F1:III-1 and F1:I-3, who subsequently were diagnosed with childhood and adult MDS, respectively. Each patient was repeatedly assessed, with individual measurements denoted by circles. Gray boxes depict age-related reference values. (C) Plots show perforin versus CD56 expression among gated CD3⁻ lymphocytes, as assessed by flow cytometry. (D) Bar graph depicts the relative median fluorescence intensity (R-MFI) of CD107a, perforin, granzyme A (Gzm A), and granzyme B (Gzm B), as indicated, in gated CD3⁻CD56^dim NK cells. (E) Bar graph depicts the frequency of exocytosing CD3⁻CD56^dim NK cells, as evaluated by induction of surface CD107a expression (ΔCD107a), by target cells, as indicated. (F) Sagittal magnetic resonance image of F1:III-1 revealing bilateral white substance changes and cerebellar degeneration. Ctrl, control; Trp, transport control.