Summary of clinical and bone marrow features of 4 noncytopenic individuals with GATA2 mutations identified by screening family members of symptomatic GATA2 deficiency patients
| Features . | P1, 30/M 4.III.1* . | P2, 28/F 4.III.2* . | P3, 66/M 6.I.1* . | P4, 26/M 9.II.2 . |
|---|---|---|---|---|
| Symptoms | Lymphedema | None | Lymphedema | None |
| GATA2 mutation | c.1017+572C>T | c.1017+572C>T | c.1017+512 del28bp | c.1192C>T, p.R398W |
| Hemoglobin (g/dL, normal 13.7-17.5 g/dL) | 15.20 | 13.2 | 14.6 | 15.7 |
| Platelets (K/μL, normal 161-347 K/μL) | 199.00 | 170.00 | 230.00 | 212.00 |
| WBC (K/μL, normal 4.23-9.07 K/μL) | 7.44 | 5.83 | 4.38 | 7.15 |
| Neutrophils (K/μL, normal 1.56-6.13 K/μL) | 3.59 | 3.02 | 2.69 | 3.73 |
| Monocytes (K/μL, normal 0.30-0.82 K/μL) | 0.79 | 0.42 | 0.5 | 0.39 |
| Lymphs (K/μL, normal 1.18-3.74 K/μL) | 2.38 | 2.2 | 0.96 | 2.86 |
| BM monocytes (% singlets) | 3.56 | 5.8 | 5.49 | 5.02 |
| BM CD34 (% singlets) | 1.37 | 1.1 | 1.22 | 0.88 |
| BM B cells (% lymphs) | 10.85 | 20.08 | 9.21 | 12.89 |
| BM hematogones (% lymphs) | 7.77 | 5.38 | 0.00 | 3.66 |
| BM NK cells (% lymphs) | 3.47 | 8.06 | 13.52 | 12.70 |
| BM T cells (% lymphs) | 76.56 | 66.41 | 74.94 | 71.05 |
| BM CD4:CD8 | 0.75 | 0.78 | 1.28 | 1.02 |
| BM CD3+CD56+ T cells (% lymphs) | 3.91 | 1.50 | 9.80 | 6.49 |
| BM CD3+CD57+ T cells (% lymphs) | 10.48 | 3.96 | 20.20 | 8.79 |
| BM CD19−CD56+ plasma cells | − | + | + | − |
| BM cellularity | 50 | 55 | 35 | 50 |
| BM cytogenetics | Normal | Normal | Normal | Normal |
| Features . | P1, 30/M 4.III.1* . | P2, 28/F 4.III.2* . | P3, 66/M 6.I.1* . | P4, 26/M 9.II.2 . |
|---|---|---|---|---|
| Symptoms | Lymphedema | None | Lymphedema | None |
| GATA2 mutation | c.1017+572C>T | c.1017+572C>T | c.1017+512 del28bp | c.1192C>T, p.R398W |
| Hemoglobin (g/dL, normal 13.7-17.5 g/dL) | 15.20 | 13.2 | 14.6 | 15.7 |
| Platelets (K/μL, normal 161-347 K/μL) | 199.00 | 170.00 | 230.00 | 212.00 |
| WBC (K/μL, normal 4.23-9.07 K/μL) | 7.44 | 5.83 | 4.38 | 7.15 |
| Neutrophils (K/μL, normal 1.56-6.13 K/μL) | 3.59 | 3.02 | 2.69 | 3.73 |
| Monocytes (K/μL, normal 0.30-0.82 K/μL) | 0.79 | 0.42 | 0.5 | 0.39 |
| Lymphs (K/μL, normal 1.18-3.74 K/μL) | 2.38 | 2.2 | 0.96 | 2.86 |
| BM monocytes (% singlets) | 3.56 | 5.8 | 5.49 | 5.02 |
| BM CD34 (% singlets) | 1.37 | 1.1 | 1.22 | 0.88 |
| BM B cells (% lymphs) | 10.85 | 20.08 | 9.21 | 12.89 |
| BM hematogones (% lymphs) | 7.77 | 5.38 | 0.00 | 3.66 |
| BM NK cells (% lymphs) | 3.47 | 8.06 | 13.52 | 12.70 |
| BM T cells (% lymphs) | 76.56 | 66.41 | 74.94 | 71.05 |
| BM CD4:CD8 | 0.75 | 0.78 | 1.28 | 1.02 |
| BM CD3+CD56+ T cells (% lymphs) | 3.91 | 1.50 | 9.80 | 6.49 |
| BM CD3+CD57+ T cells (% lymphs) | 10.48 | 3.96 | 20.20 | 8.79 |
| BM CD19−CD56+ plasma cells | − | + | + | − |
| BM cellularity | 50 | 55 | 35 | 50 |
| BM cytogenetics | Normal | Normal | Normal | Normal |
From Spinner et al.21