Characteristics of the patients’ peripheral blood and bone marrow. (A) The percentage of CD34⁺ cells were assessed using peripheral blood. The cells were gated from each lymphocytes (low SSC and CD45⁺) or monocytes (medium SSC with CD45⁺/CD14⁺) and analyzed by flow cytometry. The upper figure shows the histogram of CD34 expression for each subject, with lymphocytes on the right and monocytes on the left. The lower figure summarized the data including the mean fluorescent intensities (MFI) of CD34 expression collected from a patient (A-Ⅲ-2) and six healthy controls for each gating strategy. MFI of CD34 expression in monocytes was assessed in five subjects with Mmd2^A116V/+. (a) The data from patients (A-Ⅲ-2, A-Ⅲ-3, A-Ⅳ-1, and A-Ⅳ-2) and healthy controls were displayed. (b) The data from patient (A-Ⅲ-4) was shown with healthy controls. The results of two independent experiments were shown. (B) Identification of CD34⁺ cells in peripheral blood using immunohistochemical staining. CD34⁺ cells in peripheral blood of patients III-2 and III-4 are shown. Scale bar = 50 μm. (C) X rays of femur in patients A-III-2 and A-III-4. (D) CD34 expression level on monocytes (CD45/CD14 gated). (E) Images of the bone marrow cells of healthy subjects and patients A-III-2 and A-III-4. Scale bar = 25 μm. (F) The induced colony number (CFU-G, CFU-granulocyte; CFU-GM, CFU-granulocyte/macrophage; CFU-M, CFU-macrophage) and mature population (CD15⁺CD11b⁺CD33⁺ cells) of bone marrow cells are shown.