Cyclic and congenital neutropenia are caused by mutations in the human neutrophil
elastase (HNE) gene (ELA2), leading to an immunodeficiency characterized by decreased …

Hereditary neutropenia is usually caused by heterozygous germline mutations in the ELANE
gene encoding neutrophil elastase (NE). How mutations cause disease remains uncertain …

Severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) are sporadic or
inherited hematologic disorders of myelopoiesis. Heterozygous mutations in the gene …

Background A major area of effort in current genomics is to distinguish mutations that are
functionally neutral from those that contribute to disease. Single Nucleotide Polymorphisms …

Heterozygous mutations in ELANE, encoding neutrophil elastase (NE), cause cyclic
neutropenia. 1 and are the most common cause of severe congenital neutropenia. 2 …

In this study we show that a combination of different theoretical methods is a viable
approach to calculate the binding affinities of new ligands for the human neutrophile …

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

Human neutrophil elastase (HNE) plays a central role in neutrophil host defense, but its
broad specificity makes HNE a difficult target for both inhibitor and probe development …

Severe congenital neutropenia (SCN) is characterised by a differentiation block in the bone
marrow and low neutrophil numbers in the peripheral blood, which correlates with increased …

Severe congenital neutropenia (SCN) is characterized by a near absence of neutrophils,
rendering individuals with this disorder vulnerable to recurrent life-threatening infections …