Article
A congenital CSF3R mutation in chronic neutropenia reveals a vital role for a cytokine receptor extracellular hinge motif in the response to granulocyte colony-stimulating factor.
Pediatric blood & cancer - 1 Apr 2023
Feyen Jacqueline, Ernst Martijn P T, van der Velden Vincent H J, Valk Peter J M, Broeders Lianne, Touw Ivo P, Raaijmakers Marc H G P
Abstract excerpt
We describe a patient with congenital neutropenia (CN) with a homozygous germline mutation in the colony-stimulating factor 3 receptor gene (CSF3R). The patient's bone marrow shows lagging neutrophil development with subtle left shift and unresponsiveness to CSF3 in in vitro colony assays. This patient illustrates that the di-proline hinge motif in the extracellular cytokine receptor homology domain of CSF3R is...
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