Abstract
Isolated neutropenia may be either congenital or acquired. Congenital neutropenias result from single gene mutations, where the genes encode a diverse range of proteins involved in granulocytic progenitor expansion, survival, differentiation, cytoskeletal organization, and metabolism. Congenital neutropenias may be associated with non-hematologic abnormalities. While recombinant human granulocyte colony-stimulating factor can improve neutrophil counts, its usage may be associated with mutations in its cognate receptor and herald the transformation to myelodysplastic syndrome or acute myeloid leukemia. Besides serving as a model for understanding bone marrow failure and transformation to myeloid malignancy, these monogenic disorders provide insight into normal cellular and developmental biology of neutrophils and granulopoiesis.
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Mehta, H.M., Corey, S.J. (2018). Inherited Neutropenias and Their Insights into Cellular and Developmental Biology. In: Kupfer, G., Reaman, G., Smith, F. (eds) Bone Marrow Failure. Pediatric Oncology. Springer, Cham. https://doi.org/10.1007/978-3-319-61421-2_10
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