Mutations in ELA2, the gene encoding neutrophil elastase (NE), cause the human diseases
cyclic neutropenia (CN) and severe congenital neutropenia (SCN). Numerous mutations are …

Mutations in ELA2 encoding the neutrophil granule protease, neutrophil elastase (NE), are
the major cause of the 2 main forms of hereditary neutropenia, cyclic neutropenia and …

Severe congenital neutropenia (SCN) was originally described as an autosomal recessive
disorder. Autosomal dominant and sporadic forms of the disease have subsequently been …

Heterozygous mutations of ELA2, encoding the protease neutrophil elastase (NE), cause
either autosomal dominant cyclic neutropenia or severe congenital neutropenia (SCN) …

Heterozygous mutations of the gene encoding neutrophil elastase (ELA2) have been
associated with cyclic neutropenia (CN) and severe congenital neutropenia (SCN). To date …

Mutations in the ELA2 gene encoding human neutrophil elastase have been reported
recently to be involved in the aetiology of both, cyclic (CyN) and congenital neutropenia …

Severe congenital neutropenia (SCN) is a syndrome characterized by an isolated block in
granulocytic differentiation and an increased risk of developing acute myeloid leukemia …

Severe congenital neutropenia (SCN) was originally described as an autosomal recessive
disorder. Subsequently, autosomal dominant and sporadic forms of the disease have been …

Mutations in the ELA2 gene encoding neutrophil elastase (NE) are present in most patients
with severe congenital neutropenia (SCN). However, the mechanisms by which these …

Cyclic hematopoiesis is a stem cell disease in which the number of neutrophils and other
blood cells oscillates in weekly phases. Autosomal dominant mutations of ELA2, encoding …