congenital neutropenia

[Haematologica] The study comprises children with persistent cytopenias, myelodysplastic syndrome, aplastic anemia, or suspected inherited bone marrow failure syndromes, who were referred for genetic evaluation from all pediatric hematology centers in Israel during 2016-2019.

[Cell Stem Cell] Researchers established a model of stepwise leukemogenesis in congenital neutropenia (CN)/acute myeloid leukemiausing CRISPR-Cas9 gene editing of CN patient-derived iPSCs.

[Cell Stem Cell] Researchers conducted a pooled CRISPR screen in human hematopoietic stem and progenitor cells that correlated ELANE mutations with neutrophil maturation potential.

[Journal of Clinical Immunology] Scientists report a new patient with a novel frameshift mutation and compared this patient with the previously reported SMARCD2-mutant patients, aiming to provide a more comprehensive understanding of the natural course of the disease.

[Cell Reports Medicine] To investigate how the combination of CSF3 therapy and CSF3R and RUNX1 mutations contributes to acute myeloid leukemia (AML) development, researchers make use of mouse models, severe congenital neutropenia (SCN)-derived iPSCs, and SCN and SCN-AML patient samples.