Figure S1.
Dysmyelopoiesis in peripheral blood and BM of patient III.d at 4 mo of age. (A) While neutrophils in the peripheral blood were markedly decreased (ANC of 190 cells/mm3), rare forms at the feathered edge were enlarged and had increased nuclear lobes (Wright–Giemsa stain, 400× magnification). (B) BM aspirate at the same time showed left-shifted but full-spectrum maturation. Many myeloid precursors were enlarged and had increased nuclear lobation at all stages of maturation, but rare morphologically normal forms are present (mid-upper right) (Wright–Giemsa stain, 400× magnification). Refer to the image caption for details. Panel A: Bone marrow aspirate from Patient 3 (Roman numeral 3).d at age 9 months. The micrograph reveals a mature neutrophil accompanied by two oversized myeloid precursors. Panel B: Bone marrow aspirate from Patient 3 (Roman numeral 3).e at age 4 months. This image identifies a mature neutrophil, a secondary neutrophil with irregular nuclear lobation, and a single early-stage erythroid precursor.

Dysmyelopoiesis in peripheral blood and BM of patient III.d at 4 mo of age. (A) While neutrophils in the peripheral blood were markedly decreased (ANC of 190 cells/mm3), rare forms at the feathered edge were enlarged and had increased nuclear lobes (Wright–Giemsa stain, 400× magnification). (B) BM aspirate at the same time showed left-shifted but full-spectrum maturation. Many myeloid precursors were enlarged and had increased nuclear lobation at all stages of maturation, but rare morphologically normal forms are present (mid-upper right) (Wright–Giemsa stain, 400× magnification).

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