Characteristics of MF patients with MPO deficiency
| PID . | Diagnosis . | Mutation . | Type . | Mut (%) . | LUC (%) . | NeutroA (G/l) . | NeutroM (G/l) . | MPO (RFI) . | Additional mutations . | Susceptibility to infections . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | PET-MF | CALR | 2 | 72 | 55.3 | 1.2 | 4.6 | Low: 3.1; high: 20.8 | None | No |
| 2 | PET-MF | CALR | 2 | 88 | 80 | 0.2 | 2.7 | N/A | KRAS | Yes |
| 3 | PET-MF | CALR | p.K375Rfs*49 | 95 | 85.3 | 0.1 | 15.8 | 6.4 | ASXL1 | Yes |
| 4 | PMF | CALR | p.K375Nfs*55 | 100 | 76.9 | 0.2 | 14.6 | N/A | SF3B1 | No |
| 5 | PMF | CALR | p.K386Nfs*46 | 88.5 | 75.5 | 0.02 | 2.3 | 8.9 | ZRSR2 | No |
| 6 | PMF | JAK2 | V617F | 14 | 76.7 | 0.04 | 8.2 | 5.1 | MPO (2) | No |
| PID . | Diagnosis . | Mutation . | Type . | Mut (%) . | LUC (%) . | NeutroA (G/l) . | NeutroM (G/l) . | MPO (RFI) . | Additional mutations . | Susceptibility to infections . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | PET-MF | CALR | 2 | 72 | 55.3 | 1.2 | 4.6 | Low: 3.1; high: 20.8 | None | No |
| 2 | PET-MF | CALR | 2 | 88 | 80 | 0.2 | 2.7 | N/A | KRAS | Yes |
| 3 | PET-MF | CALR | p.K375Rfs*49 | 95 | 85.3 | 0.1 | 15.8 | 6.4 | ASXL1 | Yes |
| 4 | PMF | CALR | p.K375Nfs*55 | 100 | 76.9 | 0.2 | 14.6 | N/A | SF3B1 | No |
| 5 | PMF | CALR | p.K386Nfs*46 | 88.5 | 75.5 | 0.02 | 2.3 | 8.9 | ZRSR2 | No |
| 6 | PMF | JAK2 | V617F | 14 | 76.7 | 0.04 | 8.2 | 5.1 | MPO (2) | No |
Two neutrophil granulocyte populations in patient 1 were distinguished by MPO low and high expression.
LUC (%), percentage of LUCs in leukocytes; Mut (%), ratio of mutated allele to nonmutated allele of CALR and JAK2; N/A, not available; NeutroA, automated neutrophil granulocyte count; NeutroM, manual neutrophil granulocyte count; PET-MF, post-ET MF; PID, patient identification number; PMF, primary MF; RFI, relative fluorescent intensity of MPO to fluorescence minus 1 in neutrophil granulocytes determined by intracellular flow cytometry.