case_images: PMC11404322_01
case_images: Cell counts during GM-CSF therapy: Absolute numbers of neutrophils (blue bars), eosinophils (purple bars) and monocytes (red bars) at available time points in (A) patient 1 and (B) patient 2. G-CSF or GM-CSF were administered daily. In Patient 2 (B) A three-day break of GM-CSF treatment was required due to organizational matters and was bridged by G-CSF (5 microg/kg/d s.c.).
case_images: fimmu-15-1373495-g001.jpg
case_images: PMC11404322_01_fimmu-15-1373495-g001.jpg
case_images: f1
case_images: As an initial dose of 12 microg/kg/d (=212microg/m2/d) GM-CSF s.c. did not show any quantitative effect, the dose was subsequently increased to 20 microg/kg/d (350microg/m2/d) s.c. for another 6 days ( Figure 1B ). In both cases, monocytes were already elevated on G-CSF therapy, and did not show major variations on GM-CSF therapy ( Figures 1A, B ).
case_images: Lack of mature neutrophil granulocytes in bone marrow of our JAGN1-mutant SCN patients: Exemplary microscopic images of bone marrow from (A) patient 1, (B) patient 2 and (C) a healthy control by light microscopy (40x magnification). Bone marrow aspiration samples were spread on slides and samples were stained with May-Grunwald-Giemsa. At the time of bone marrow aspiration, patient 1 was under G-CSF treatment while patient 2 had not yet started with G-CSF.
case_images: fimmu-15-1373495-g002.jpg
case_images: PMC11404322_01_fimmu-15-1373495-g002.jpg
case_images: f2
case_images: In the bone marrow, there was a maturation arrest of granulopoiesis in line with a diagnosis of SCN ( Figure 2B ).