Congenital Neutropenia

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Abstract
Infantile genetic agranulocytosis (IGA) has a high morbidity and mortality rate due to severe neutropenia. The pathogenetic mechanisms of this syndrome have not been elucidated. However, a recent clinical trial with recombinant human granulocyte-colony-stimulating factor (rhG-CSF) has shown a dramatic increase in the absolute neutrophil count in patients with IGA. This suggests that these patients have either a lack of granulocyte-colony-stimulating factor (G-CSF) or have a defect in the G-CSF receptors. A clinical trial of recombinant human granulocyte-macrophage colony stimulating factor (rhGM-CSF) in an infant with IGA is reported in this article. A marked eosinophilic response was observed without any increase in the absolute neutrophil count (ANC). In an effort to elucidate the pathogenetic mechanism underlying IGA, we examined (a) the in vitro response of patient's CFU-GM to rhGM-CSF and to rhG-CSF and (b) the ability of patient's monocytes to produce G-CSF. Our results tend to support the thesis that the defect in IGA is at the G-CSF receptor level. We also found a lack of correlation between in vivo and in vitro response to rhGM-CSF.

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