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

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

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 …

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

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

Congenital neutropenia and cyclic neutropenia are disorders of neutrophil production
predisposing patients to recurrent bacterial infections. Recently the locus for autosomal …

Severe neutropenia disorders are characterized by extremely low levels of peripheral blood
neutrophils, a maturation block of bone marrow progenitor cells and recurring severe …

Congenital neutropenia represents a heterogeneous group of inherited disorders with the
common denominator of persistent and genetically determined paucity of neutrophil …

BACKGROUND AND OBJECTIVES: Severe congenital neutropenia (SCN) or Kostmann
syndrome was originally reported to be an autosomal recessive disease of neutrophil …

Heterozygous mutations in neutrophil elastase have been detected in many sporadic cases
of congenital neutropenia. However, a convincing pathogenetic mechanism has not been …