Summary of clinical and bone marrow features of 4 new patients presenting with pancytopenia that were positive for GATA2 mutations
| Features . | P1, 43/F . | P2, 24/F . | P3, 28/F . | P4, 36/M . |
|---|---|---|---|---|
| Hemoglobin (g/dL, normal 13.7-17.5 g/dL) | 11.3 | 9.9 | 11.4 | 10.7 |
| Platelet count (K/μL, normal 161-347 K/μL) | 105.00 | 67.00 | 183.00 | 77.00 |
| Neutrophils (K/μL, normal 1.56-6.13 K/μL) | 1.75 | 1.73 | 1.25 | 1.24 |
| Monocytes (K/μL, normal 0.30-0.82 K/μL) | 0.04 | 0.06 | 0.01 | 0.00 |
| Lymphocytes (K/μL, normal 1.18-3.74 K/μL) | 1.01 | 0.36 | 1.23 | 1.05 |
| BM FC monocytes (% singlets) | 0.53 | 2.69 | 0.53 | 0.19 |
| BM FC CD34 (% singlets) | 0.45 | 0.24 | 0.45 | 0.32 |
| BM FC B cells (% lymphs) | 2.96 | 1.49 | 2.78 | 3.09 |
| BM FC hematogones (% lymphs) | 0.00 | 0.00 | 0.00 | 0.00 |
| BM FC NK cells (% lymphs) | 0.90 | 12.22 | 3.10 | 2.29 |
| BM FC T cells (% lymphs) | 94.80 | 84.90 | 93.10 | 93.90 |
| BM FC CD4:CD8 | 0.54 | 0.62 | 1.02 | 0.35 |
| BM FC CD3+CD56+ T cells (% lymphs) | 6.29 | 7.71 | 13.71 | 14.59 |
| BM FC CD3+CD57+ T cells (% lymphs) | 40.77 | 33.43 | 18.74 | 25.05 |
| BM FC CD19−CD56+ plasma cells | − | − | + | − |
| Atypical megakaryocytes | +++ | + | ++ | +++ |
| BM cytogenetics | +8 | +8 | Normal | +8 |
| GATA2 mutation | c.1114G>A | c.1123C>T | c.1017+572C>T | c.229+1G>A |
| A372T | L375F |
| Features . | P1, 43/F . | P2, 24/F . | P3, 28/F . | P4, 36/M . |
|---|---|---|---|---|
| Hemoglobin (g/dL, normal 13.7-17.5 g/dL) | 11.3 | 9.9 | 11.4 | 10.7 |
| Platelet count (K/μL, normal 161-347 K/μL) | 105.00 | 67.00 | 183.00 | 77.00 |
| Neutrophils (K/μL, normal 1.56-6.13 K/μL) | 1.75 | 1.73 | 1.25 | 1.24 |
| Monocytes (K/μL, normal 0.30-0.82 K/μL) | 0.04 | 0.06 | 0.01 | 0.00 |
| Lymphocytes (K/μL, normal 1.18-3.74 K/μL) | 1.01 | 0.36 | 1.23 | 1.05 |
| BM FC monocytes (% singlets) | 0.53 | 2.69 | 0.53 | 0.19 |
| BM FC CD34 (% singlets) | 0.45 | 0.24 | 0.45 | 0.32 |
| BM FC B cells (% lymphs) | 2.96 | 1.49 | 2.78 | 3.09 |
| BM FC hematogones (% lymphs) | 0.00 | 0.00 | 0.00 | 0.00 |
| BM FC NK cells (% lymphs) | 0.90 | 12.22 | 3.10 | 2.29 |
| BM FC T cells (% lymphs) | 94.80 | 84.90 | 93.10 | 93.90 |
| BM FC CD4:CD8 | 0.54 | 0.62 | 1.02 | 0.35 |
| BM FC CD3+CD56+ T cells (% lymphs) | 6.29 | 7.71 | 13.71 | 14.59 |
| BM FC CD3+CD57+ T cells (% lymphs) | 40.77 | 33.43 | 18.74 | 25.05 |
| BM FC CD19−CD56+ plasma cells | − | − | + | − |
| Atypical megakaryocytes | +++ | + | ++ | +++ |
| BM cytogenetics | +8 | +8 | Normal | +8 |
| GATA2 mutation | c.1114G>A | c.1123C>T | c.1017+572C>T | c.229+1G>A |
| A372T | L375F |
FC, flow cytometry.