Figure 1.
Bone marrow aspirate smears from patients 1 and 2. (A) Patient 1 sample with markedly hypocellular marrow biopsy with trilineage hypoplasia (original magnification ×100 with hematoxylin and eosin [H&E] staining). (B) Patient 1 paucicellular smear with erythroid cells and a dysplastic multinucleated cell shown on inset (original magnification ×1000 with Wright-Giemsa stain). (C) Patient 2 sample with hypocellular bone marrow biopsy (original magnification ×100 with H&E staining). (D) Patient 2 with dysplastic megakaryocytes with separated nuclear lobes noted on aspirate smear (1000× with Wright-Giemsa stain). (E) Flow cytometry analysis of bone marrow samples. Scatter plots are shown for monocytes (CD14 and CD64), dendritic cells (CD123 and HLA DR), and lymphocytes (CD10 and CD20). The indicated population is marked with the square and percentage given above. Samples are shown for a normal control, a typical patient with GATA2 deficiency (R396Q), and the 2 patients in this study.

Bone marrow aspirate smears from patients 1 and 2. (A) Patient 1 sample with markedly hypocellular marrow biopsy with trilineage hypoplasia (original magnification ×100 with hematoxylin and eosin [H&E] staining). (B) Patient 1 paucicellular smear with erythroid cells and a dysplastic multinucleated cell shown on inset (original magnification ×1000 with Wright-Giemsa stain). (C) Patient 2 sample with hypocellular bone marrow biopsy (original magnification ×100 with H&E staining). (D) Patient 2 with dysplastic megakaryocytes with separated nuclear lobes noted on aspirate smear (1000× with Wright-Giemsa stain). (E) Flow cytometry analysis of bone marrow samples. Scatter plots are shown for monocytes (CD14 and CD64), dendritic cells (CD123 and HLA DR), and lymphocytes (CD10 and CD20). The indicated population is marked with the square and percentage given above. Samples are shown for a normal control, a typical patient with GATA2 deficiency (R396Q), and the 2 patients in this study.

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