The Turkish Journal of Pediatrics 2010 , Vol 52 , Num 1
HAX1 mutation in an infant with severe congenital neutropenia
1Department of Pediatric Hematology-Oncology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, and 3Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran, and 2Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by persistent severe neutropenia and early-onset bacterial infections.

Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infections and chronic diarrhea. Serial complete blood counts indicated persistent neutropenia. Bone marrow aspiration of the patient demonstrated maturation arrest of myeloid series at promyelocyte-myelocyte stages. W44X mutation in the HAX1 gene confirmed the diagnosis of SCN. The patient was successfully treated with granulocyte colony-stimulating factor.

Severe congenital neutropenia should be considered in children with early-onset recurrent infections and neutropenia, since early diagnosis and appropriate treatment can prevent further complications. Keywords : severe congenital neutropenia, HAX1 mutation, granulocyte colonystimulating factor.

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