Supplementary Figure 3: Decreased expression of granulocyte-specific proteins in SMARCD2-deficient hematopoietic cells.

(a) Immunohistochemical detection of lactoferrin (LTF) in healthy donor (HD) bone marrow cells showing strong expression of LTF in myeloid cells. (b) Immunohistochemical detection of CD15 on healthy donor bone marrow, showing strong expression of CD15 by mature neutrophilic cells. (c) Immunohistochemical detection of myeloperoxidase showing normal amounts and distribution of myeloperoxidase (MPO)-expressing neutrophilic cells presenting at all stages of maturation. (d) Immunohistochemical detection of LTF in patient AII.1 showing lack of LTF-expressing cells. (e) Immunohistochemical detection of CD15 in patient AII.1 showing reduced intensity and decreased cell numbers of CD15-expressing cells. (f) Immunohistochemical detection of MPO in patient AII.1 bone marrow cells showing a hypercellular bone marrow with presence of neutrophilic cells and blast cells expressing MPO with considerably lower intensity as compared to HD. (g) Immunohistochemical detection of LTF in patient BII.2 shows false positive background staining in a postmortem sample (note that LTF deficiency in cells from BII.1 has previously been documented by ELISA). (h) Immunohistochemical detection of CD15 on patient BII.2 bone marrow cells shows a hypercellular bone marrow with almost complete absence of CD15-expressing cells. (i) Immunohistochemical detection of MPO in patient BII.2 bone marrow cells shows hypercellularity. MPO-positive neutrophilic cells are reduced in numbers and intensity in comparison to HD. (j) Immunohistochemical detection of LTF in patient CII.1 showing a hypercellular bone marrow and a lack of LTF-expressing cells. (k) Immunohistochemical detection of CD15 in patient CII.1 showing a hypercellular bone marrow with markedly reduced intensity and decreased cell numbers of CD15-expressing cells in comparison to HD. (l) Immunohistochemical detection of MPO in patient CII.1 bone marrow cells shows a hypercellular bone marrow with clusters of neutrophilic cells and blast cells. MPO expression is reduced. Images have been partially cropped. Scale bars, approximately 20 μm.