Hematologic features of phenotypes seen in GATA2 deficiency
| Phenotype . | Normal . | Immunodeficiency . | Bone marrow failure . | MDS/AML/CMML . |
|---|---|---|---|---|
| Infections | − | + | +/− | +/− |
| Peripheral blood | ||||
| No cytopenias | + | |||
| Monocytopenia | + | + | + | |
| B-, NK- lymphopenia | + | + | + | |
| Inverted CD4:CD8 ratio | + | + | + | |
| Anemia | +/− | +/− | ||
| Neutropenia | +/− | +/− | ||
| Thrombocytopenia | +/− | +/− | ||
| Increased blasts | +/− | |||
| Monocytosis | + (CMML, AML[monocytic]) | |||
| Bone marrow morphology | ||||
| Normocellular | + | |||
| Hypocellular | +/− | + | +/− | |
| Hypercellular | −/+ | |||
| No dysplasia | + | |||
| Atypical megakaryocytes | +/− | + | + | |
| Myeloid/erythroid dysplasia | + | |||
| Increased blasts | + (RAEB, AML, CMML) | |||
| Bone marrow flow cytometry | ||||
| No cytopenias | + | |||
| Monocytopenia | + | + | + | |
| B-, NK-lymphopenia | + | + | + | |
| Reduced hematogones | + | + | + | |
| Inverted CD4:CD8 ratio | + | + | + | |
| Abnormal myeloid maturation | + | |||
| CD19−CD56+ plasma cells | +/− | +/− | +/− | |
| Increased blasts | + (RAEB, AML, CMML) | |||
| Increased monos/precursors | + (CMML, AML[monocytic]) | |||
| Cytogenetics | ||||
| Normal | + | + | + | + |
| Abnormal | + | + |
| Phenotype . | Normal . | Immunodeficiency . | Bone marrow failure . | MDS/AML/CMML . |
|---|---|---|---|---|
| Infections | − | + | +/− | +/− |
| Peripheral blood | ||||
| No cytopenias | + | |||
| Monocytopenia | + | + | + | |
| B-, NK- lymphopenia | + | + | + | |
| Inverted CD4:CD8 ratio | + | + | + | |
| Anemia | +/− | +/− | ||
| Neutropenia | +/− | +/− | ||
| Thrombocytopenia | +/− | +/− | ||
| Increased blasts | +/− | |||
| Monocytosis | + (CMML, AML[monocytic]) | |||
| Bone marrow morphology | ||||
| Normocellular | + | |||
| Hypocellular | +/− | + | +/− | |
| Hypercellular | −/+ | |||
| No dysplasia | + | |||
| Atypical megakaryocytes | +/− | + | + | |
| Myeloid/erythroid dysplasia | + | |||
| Increased blasts | + (RAEB, AML, CMML) | |||
| Bone marrow flow cytometry | ||||
| No cytopenias | + | |||
| Monocytopenia | + | + | + | |
| B-, NK-lymphopenia | + | + | + | |
| Reduced hematogones | + | + | + | |
| Inverted CD4:CD8 ratio | + | + | + | |
| Abnormal myeloid maturation | + | |||
| CD19−CD56+ plasma cells | +/− | +/− | +/− | |
| Increased blasts | + (RAEB, AML, CMML) | |||
| Increased monos/precursors | + (CMML, AML[monocytic]) | |||
| Cytogenetics | ||||
| Normal | + | + | + | + |
| Abnormal | + | + |