Defective G-CSFR signaling pathways in congenital neutropenia
J Skokowa, K Welte - Hematology/Oncology Clinics, 2013 - hemonc.theclinics.com
Granulocyte colony-stimulating factor (G-CSF) receptor (G-CSFR) activation with ligand
binding induces myeloid cell proliferation, survival, and differentiation. 1 Acquired somatic
mutations within the CSF3R gene and/or defects in the CSF3R downstream signaling
pathways abrogate myeloid differentiation and might lead to either leukemic transformation
or congenital neutropenia (CN). 2, 3 In CN patients, the levels of G-CSF mRNA in
mononuclear cells, the concentrations of biologically active G-CSF in serum, and the CSF3R …
binding induces myeloid cell proliferation, survival, and differentiation. 1 Acquired somatic
mutations within the CSF3R gene and/or defects in the CSF3R downstream signaling
pathways abrogate myeloid differentiation and might lead to either leukemic transformation
or congenital neutropenia (CN). 2, 3 In CN patients, the levels of G-CSF mRNA in
mononuclear cells, the concentrations of biologically active G-CSF in serum, and the CSF3R …