Gene mutations, blood cell counts, and hematopoietic differentiation in patients with GATA2 deficiency. (A) Schematic diagrams of GATA2 messenger RNA and protein. Mutations of the GATA2 gene or protein lesions in patients are indicated. (B) Patients’ hemoglobin levels (HGB), platelet counts (PLT), white blood cell counts (WBC), neutrophil counts, monocyte counts, B-cell counts, NK-cell counts, and T-cell counts. Background shading shows a normal reference range for each parameter. (C) Patients’ cells were mapped onto the differentiation tree (left) by the nearest neighbor method, based on transcriptome similarity with cells from healthy donors. A pie chart (right) in each panel shows percentages of subpopulations in HSPCs. (D) AUC scores were computed based on expression of lineage signature genes. Signature scores of MEP, GMP, ProB, and ETP in patients were compared with those in healthy donors using 2-sided, unpaired Mann-Whitney U test. A column plot shows means ± standard deviation. *P < .05. Sample patient 4-2 was obtained before HSC transplantation, 8 months after patient 4-1. During this interval, patient 4 had extensive progression of human papilloma virus infection, but there was no significant difference in blood counts and BM biopsy appearance. NS, not significant.