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

The discovery of genetic defects causing congenital neutropenia has illuminated
mechanisms controlling differentiation, circulation, and decay of neutrophil granulocytes …

Neutrophil elastase gene (ELANE) mutations are responsible for the majority of cases of
severe congenital neutropenia (CN) and cyclic neutropenia (C y N). We screened CN (n …

The canonical Wnt signaling pathway is mediated by interaction of β-catenin with the T-cell
factor/lymphoid enhancer-binding factor (TCF/LEF) transcription factors and subsequent …

Neutrophils are amongst the first immune cells to arrive at sites of infection and play an
important role as the host's first line of defence against invading pathogens. Defects of …

Genetic etiologies of severe congenital neutropenia : Current Opinion in Pediatrics Genetic
etiologies of severe congenital neutropenia : Current Opinion in Pediatrics Log in or Register …

C/EBPε, a member of the CCAAT/enhancer binding protein (C/EBP) family of transcription
factors, is exclusively expressed in myeloid cells and regulates transition from the …

Background Cyclic neutropenia (CN) and severe congenital neutropenia (SCN) are
disorders of neutrophil production that differ markedly in disease severity. Mutations of the …

HAX1 was identified as the gene responsible for the autosomal recessive type of severe
congenital neutropenia. However, the connection between mutations in the HAX1 gene and …

We identified diminished levels of the natural inhibitor of neutrophil elastase (NE), secretory
leukocyte protease inhibitor (SLPI), in myeloid cells and plasma of patients with severe …