In:
Pediatric Blood & Cancer, Wiley, Vol. 70, No. 4 ( 2023-04)
Kurzfassung:
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 critical for adequate neutrophil production, but dispensable for in vivo terminal neutrophil maturation. This report underscores that CN patients with inherited CSF3R mutations should be marked as a separate clinical entity, characterized by a failure to respond to CSF3.
Materialart:
Online-Ressource
ISSN:
1545-5009
,
1545-5017
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2023
ZDB Id:
2130978-4