Two cases of cyclic neutropenia with acquired CSF3R mutations, with 1 developing AML
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چکیده
منابع مشابه
Two cases of cyclic neutropenia with acquired CSF3R mutations, with 1 developing AML.
Congenital neutropenia (CN) and cyclic neutropenia (CyN) are rare genetic disorders of hematopoiesis predominantly caused by ELANE mutations. Due to overlaps in their genetic profiles, CyN can be distinguished from CN by cycling neutrophil counts, usually at 21-day intervals, in the former. In contrast to CN, CyN is also characterized by cycling of platelets, monocytes, and reticulocytes. Infec...
متن کاملLetters to Blood To the editor : Two cases of cyclic neutropenia with acquired CSF 3 R mutations , with 1 developing AML
Congenital neutropenia (CN) and cyclic neutropenia (CyN) are rare genetic disorders of hematopoiesis predominantly caused by ELANE mutations. Due to overlaps in their genetic profiles, CyN can be distinguished from CN by cycling neutrophil counts, usually at 21-day intervals, in the former. In contrast to CN, CyN is also characterized by cycling of platelets, monocytes, and reticulocytes. Infec...
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Severe congenital neutropenia (CN) is a rare bone marrow failure syndrome with a high incidence of acute leukemia. In previous studies, we could show that point mutations in the gene for the granulocyte colony-stimulating factor (G-CSF) receptor CSF3R are a highly predictive marker for leukemic development in CN patients. To find out at which stage of hematopoietic development these mutations e...
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ژورنال
عنوان ژورنال: Blood
سال: 2016
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2015-12-685784