Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia
نویسندگان
چکیده
منابع مشابه
In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia.
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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Granulocyte colony-stimulating factor (GCSF) and its receptor (GCSFR), also known as CSF3 and CSF3R, are required to maintain normal neutrophil numbers during basal and emergency granulopoiesis in humans, mice and zebrafish. Previous studies identified two zebrafish CSF3 ligands and a single CSF3 receptor. Transient antisense morpholino oligonucleotide knockdown of both these ligands and recept...
متن کاملGranulopoiesis in severe congenital neutropenia.
The pathogenesis of the granulopoietic failure in three children with severe congenital neutropenia was studied. Mature neutrophils were absent from both peripheral blood and bone marrow. Assay of bone marrow granulocyte colony-forming cells (CFU-C) in a methylcellulose tissue culture system using colony-stimulating activity (CSA) from peripheral blood leukocytes demonstrated normal or increase...
متن کاملSevere congenital neutropenia: case report
Introduction Neutropenia is defined in the literature as absolute neutrophil counts in peripheral blood of less than 1500 cells/mm3 in more than one year old and less than 2000cells/mm3 in children in the first year old of life. Neutropenia is classified as mild, moderate or severe, and may be congenital or acquired, persistent or not. Kostmann syndrome is a severe neutropenia, the incidence va...
متن کاملprevention and control of infections in patients with severe congenital neutropenia; a follow up study
severe congenital neutropenia is one of primary immunodeficiency disorders that characterized by severe neutropenia and is associated with severe systemic bacterial infections from early infancy. granulocyte colony stimulating factor (gcsf) is clinically used as a treatment for congenital and acquired neutropenia. the aim of this study was evaluation of gcsf (pd- grastim) in treatme...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2019
ISSN: 1664-3224
DOI: 10.3389/fimmu.2019.00116