HAX1 mutation in an infant with severe congenital neutropenia
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...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2010-02-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/4946 |
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| _version_ | 1850236897435058176 |
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| author | Aziz Eghbali Peyman Eshghi Fatemeh Malek Hengameh Abdollahpour Nima Rezaei |
| author_facet | Aziz Eghbali Peyman Eshghi Fatemeh Malek Hengameh Abdollahpour Nima Rezaei |
| author_sort | Aziz Eghbali |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-a60d14d45f50440c93788cfc2ff54895 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2010-02-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-a60d14d45f50440c93788cfc2ff548952025-08-20T02:01:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212010-02-01521HAX1 mutation in an infant with severe congenital neutropeniaAziz Eghbali0Peyman EshghiFatemeh MalekHengameh AbdollahpourNima RezaeiDepartment of Pediatric Hematology-Oncology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 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. https://turkjpediatr.org/article/view/4946 |
| spellingShingle | Aziz Eghbali Peyman Eshghi Fatemeh Malek Hengameh Abdollahpour Nima Rezaei HAX1 mutation in an infant with severe congenital neutropenia The Turkish Journal of Pediatrics |
| title | HAX1 mutation in an infant with severe congenital neutropenia |
| title_full | HAX1 mutation in an infant with severe congenital neutropenia |
| title_fullStr | HAX1 mutation in an infant with severe congenital neutropenia |
| title_full_unstemmed | HAX1 mutation in an infant with severe congenital neutropenia |
| title_short | HAX1 mutation in an infant with severe congenital neutropenia |
| title_sort | hax1 mutation in an infant with severe congenital neutropenia |
| url | https://turkjpediatr.org/article/view/4946 |
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