Increased numbers of PML-NBs in ELANE-SCN HPCs with predicted NE-misfolding mutations. (A) Quantifications of the number of PML-NBs per cell, by immunofluorescence stainings, shows increased numbers of PML-NBs in ELANE-I60F derived HPCs (data are pooled from 2 independent clones, 5 independent experiments, and 2 different stainings resulting in control, n = 1119; ELANE-R103L, n = 720; ELANE-I60F, n = 732; HAX1-W44X, n = 914, where n = the number of cells). The red line indicates the median number of PML-NBs/cell for the control HPCs. (B) Amino acid alterations of the ELANE-R103L and ELANE-I60F mutations, with a closeup of the mutation in ribbon-presentation. The wild-type amino acid is depicted in green and the mutant in red. (C) Quantifications of the number of PML-NBs in CD34⁺ bone marrow cells, showing increased numbers of PML-NBs in ELANE-mutant HPCs with predicted NE misfolding (I60F and P139L). The red line indicates the median number of PML-NBs/cell for the control HPCs. Cells analyzed: control 1, n = 89; control 2, n = 127; ELANE-I60F, n = 79; ELANE-P139L, n = 63; ELANE-I120T, n = 103; and ELANE-S204TfsX11 n = 74. (D) Amino acid alterations of the ELANE-P139L and ELANE-I120T mutations, depicted as outlined under panel B. ***P < .001.