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Case Reports
, 33 (1), 51-3

Uncommon Cause of Recurrent Infections

Case Reports

Uncommon Cause of Recurrent Infections

Uday R Deotare et al. Indian J Med Paediatr Oncol.


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.

Keywords: Acute myelogenous leukemia; ELANE (elastase neutrophil expressed) gene – related neutropenia; granulocyte-colony stimulating factor; hematopoietic stem-cell transplant; kostmann syndrome; severe congenital neutropenia.

Conflict of interest statement

Conflict of Interest: None declared.

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