Fig 4.

SMARCD2-deficient CD34⁺ cells fail to expand and differentiate toward the neutrophil lineage. A, In vitro CD34⁺ cell expansion toward the neutrophil lineage (time = days in culture). CD34⁺ cells were derived from control cord blood (n = 3) or bone marrow from the patient (n = 1) and an unrelated patient with glycogen storage disease type 1B (n = 1). B and C, Cytospins of in vitro CD34⁺ cell differentiation toward the neutrophil lineage on the indicated days. Cytospins shown for CD34⁺ cells derived from control cord blood (Fig 4, B) or bone marrow from the patient (Fig 4, C). Unfilled arrow indicates a band neutrophil, and black arrow indicates a segmented neutrophil (in the patient). D, Sanger sequencing confirming the patient’s homozygous variant at SMARCD2 c.1181+1G>A.