Panel A: A line graph showing white blood cell (W B C) counts, neutrophil and lymphocyte counts, and T R E C and K R E C values over days after birth for U P N 1. The horizontal-axis represents days after birth, and the vertical-axis represents cell counts per microliter and copies per microliter. Different lines represent W B C, neutrophils, B cells, T cells, K R E C, and T R E C. The graph shows fluctuations in these counts over time, with notable increases and decreases at specific time points (T P 1 and T P 2). Panel B: An image of a bone marrow smear at T P 1, showing various blood cells and hematopoietic progenitor cells. Panel C: Images of bone marrow smears at T P 2, showing an increase in hematopoietic progenitor cells, particularly within the myeloid lineage, following r h G-C S F administration. Panel D: A line graph showing white blood cell counts and neutrophil and lymphocyte counts over days after birth for U P N 2. The x-axis represents days after birth, and the y-axis represents cell counts per microliter. Different lines represent W B C, neutrophils, and lymphocytes. The graph shows fluctuations in these counts over time, with notable increases and decreases at specific time points (T P 3 and T P 4).
Clinical presentations of two patients with RD with and without rhG-CSF administration before HSCT. (A) Clinical presentation of UPN1 with RD. BMA was performed without rhG-CSF administration on postnatal day 8 (TP1) and with its administration on postnatal day 97 (TP2). On 35 days of age, KREC values and B lymphocyte counts were moderately increased. (B and C) TP1 (B) and TP2 (C) of the BM smear. Hematopoietic progenitor cells, particularly within the myeloid lineage, increased following rhG-CSF administration. (D) Clinical presentation of UPN2 with RD. BMA was performed on postnatal day 75 with rhG-CSF administration (TP3) and without it before HSCT (TP4). BMA, bone marrow aspiration; BM, betamipron; BU, busulfan; CY, cyclophosphamide; CBT, cord blood transplantation; FLU, fludarabine; HSCT, hematopoietic stem cell transplantation; KREC, kappa-deleting recombination excision circle; MCFG, micafungin; MEL, melphalan; MEMP, meropenem; PAPM, panipenem; PSL, prednisolone; RD, reticular dysgenesis; rhG-CSF, recombinant human granulocyte colony-stimulating factor; TP, time point; UPN, unique patient number; VRCZ, voriconazole; WBC, white blood cell.