Rare disease in which neutrophils and a other white blood cell counts fluctuate, usually on a 21 day cycle.
With marked neutropenia patients are susceptible to life threatening infections every 3 weeks.
An autosomal dominant disease, with multiple family members degeneration possibly having the disease.
Caused by a mutation in the ELANE gene that encodes for neutrophil elastase.
A rare disorder due to an inherited or sporadic mutation in the neutrophil elastase gene (ELANE), which is located on band 19p13.3.
It is associated with the 162800 phenotype of the OMIM database.
The disease is characterized by periodic (21-d cycles) failures of hematopoiesis, leading to neutropenia, as well as decreased monocyte, eosinophil, lymphocyte, platelet, and reticulocyte counts.
Elastase is an enzyme produced and packaged in the primary granules of neutrophils.
The genetic mutation causes production of an abnorml protein that leads to cell productin failure.
A number of different mutations can occur with this gene, which can result in milder abnormalities, or such severe abnormalities associated with marked neutropenia at all times.