GRANULOCYTE-COLONY-STIMULATING FACTOR-RECEPTOR MUTATIONS IN SEVERE CHRONIC NEUTROPENIA AND ACUTE MYELOID-LEUKEMIA - BIOLOGICAL AND CLINICAL-SIGNIFICANCE

Blood cell formation is governed by the haemopoietic growth factors th at control the proliferation, maturation and survival of the haemopoie tic progenitor cells via activation of receptors expressed on the cell membrane. Most of these receptors share structural features and have been grouped in the haemopoietin or class I receptor superfamily. Rece ntly considerable progress has been made in elucidating the regions cr itical for the function of these receptors and the signal transduction mechanisms that they activate. Moreover, it has become clear that cer tain clinical haematological conditions can be linked to specific defe cts in these receptors. The significance of defects in the receptor fo r granulocyte colony-stimulating factor (G-CSF) in the pathogenesis of severe congenital neutropenia and acute myeloid leukaemias is discuss ed.