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CC BY-NC-ND 4.0 · Indian J Med Paediatr Oncol 2012; 33(01): 51-53
DOI: 10.4103/0971-5851.96971
CASE REPORT

Uncommon cause of recurrent infections

Uday R Deotare
Department of Hematology, Sterling Hospital, Memnagar, Ahmedabad, Gujarat, India, India
,
Pranav D Patel
Research Volunteer, St Luke′s Roosevelt Hospital, New York, USA, India
,
Rohan P Parikh
Resident, General Medicine, B. J. Medical College, Ahmedabad, Gujarat, India, India
,
Eva A Bhagat
Department of Hematology, Sterling Hospital, Memnagar, Ahmedabad, Gujarat, India, India
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Abstract

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


Publication History

Article published online:
13 April 2022

© 2012. Indian Society of Medical and Paediatric Oncology. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/.)

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