Severe congenital neutropenia (SCN) is a genetically heterogeneous condition of bone
marrow failure usually diagnosed in early childhood and characterized by a chronic and …

Severe congenital neutropenia (SCN) is a BM failure syndrome with a high risk of
progression to acute myeloid leukemia (AML). The underlying genetic changes involved in …

Acquired mutations in the colony-stimulating factor 3 receptor gene (CSF3R), truncating the
cytosolic region of the CSF3R protein, were discovered almost two decades ago in severe …

Severe congenital neutropenia (SCN) is a heterogeneous disease condition with a variable
family history and a propensity to progress towards myelodysplastic syndrome (MDS) and …

Severe congenital neutropenias are a heterogeneous group of rare haematological
diseases characterized by impaired maturation of neutrophil granulocytes. Patients with …

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 …

Severe congenital neutropenia (SCN) is a rare hematological disease characterized by a
selective decrease in the level of circulating neutrophils in peripheral blood, maturation …

Background Severe congenital neutropenia (SCN) is an immunodeficiency characterized by
disturbed myelopoiesis and an absolute neutrophil count (ANC)< 0.5× 109/L. SCN is also a …

Acquired mutations in the intracellular part of CSF3R (colony stimulating factor 3 receptor,
granulocyte) have been detected with a frequency of more than 30% in severe congenital …

Severe congenital neutropenias (SCNs) are rare diseases, and to date about 30 subtypes
have been described according to their genetic causes. Standard care aims to prevent …