SEVERE CONGENITAL NEUTROPENIA UNRESPONSIVE TO G-CSF

Severe congenital neutropenia (SCN) is an inherited disorder character ized by severe neutropenia and recurrent infections from an early age, with bone marrow showing a maturational arrest of granulopoiesis at t he promyelocyte stage. Since the introduction of G-CSF therapy the pro gnosis for affected children has improved dramatically, We describe tw o patients with SCN who were clinically unresponsive to G-CSF therapy. The results of in-vitro colony assays from these two patients are pre sented together with the results from the mother of one of these patie nts who also has a chronic neutropenia, and a further child with SCN w ho responded to treatment with G-CSF.