Fig 1.

Primary SMARCD2-deficient neutrophils are phenotypically immature. A, Patient family tree. Double lines indicate consanguinity; circle indicates female; square indicates male; gray-filled circle indicates patient. The SMARCD2 genotype at c.1181+1 is indicated for the proband and her parents. B, Patient clinical features. C, Flow cytometric gating strategy for neutrophils (P1) based on forward/side scatter (FSC vs SSC). D, Expression of neutrophil maturation markers on the cell membrane was assessed by flow cytometry. Neutrophils are gated as in Fig 1, C (n = 1). Historical healthy controls (1-day old blood) are also depicted (mean + SD, n = 9-13). E, Cytospins of isolated white blood cells. White arrows indicate normal segmented neutrophils (in the travel control, left), and black arrows indicate cells that morphologically resemble metamyelocyte- or band neutrophils (in the patient, right) (original magnification ×400; May-Grünwald Giemsa stain). BMT, Bone marrow transplant; FSC, forward scatter; HSCT, hematopoietic stem cell transplantation; MFI, mean fluorescence intensity; SSC, side scatter.