Uncommon cause of recurrent infections

We descibe the case of a girl of Indian origin who presented with recurrent infections. The only abnormality detected in the armoury of the immune system was consistent neutropenia. Mutation analysis revealed ELA2 (neutrophil elastase) gene mutation that has been associated with severe congenital neutropenia phenotype. Patient was treated with the granulocyte-colony stimulating factor (G-CSF) as prevention of infectious manifestations along with appropriate measure to curb secondary complications. She showed poor response to the G-CSF during stringent surveillance. After being on treatment for 1 year, she developed acute myelogenous leukemia as inherit complication of this disease.