About Kostmann syndrome

What is Kostmann syndrome?

Kostmann syndrome is a rare inherited disorder characterized by severe neutropenia, a condition in which the body does not produce enough neutrophils, a type of white blood cell that helps fight infection. People with Kostmann syndrome are at an increased risk of developing serious infections. Treatment typically involves medications to boost the production of neutrophils, as well as antibiotics to treat any infections that occur.

What are the symptoms of Kostmann syndrome?

The primary symptom of Kostmann syndrome is severe neutropenia, which is a condition in which the body does not produce enough neutrophils, a type of white blood cell that helps fight infection. Other symptoms may include recurrent infections, fever, fatigue, mouth ulcers, and skin rashes.

What are the causes of Kostmann syndrome?

Kostmann syndrome is an inherited disorder caused by mutations in the ELA2 gene. This gene provides instructions for making an enzyme called neutrophil elastase, which is important for the development and function of neutrophils, a type of white blood cell. Mutations in the ELA2 gene reduce or eliminate the activity of neutrophil elastase, leading to a decrease in the number of neutrophils in the body. This decrease in neutrophils causes the signs and symptoms of Kostmann syndrome.

What are the treatments for Kostmann syndrome?

The primary treatment for Kostmann syndrome is regular injections of granulocyte colony-stimulating factor (G-CSF). G-CSF is a medication that stimulates the production of neutrophils, which are a type of white blood cell that helps fight infection. Other treatments may include antibiotics, transfusions of red blood cells, and bone marrow transplants.

What are the risk factors for Kostmann syndrome?

The primary risk factor for Kostmann syndrome is a genetic mutation in the GFI1 gene. This gene is responsible for producing a protein that helps regulate the production of white blood cells. Other risk factors include a family history of the disorder, being of Ashkenazi Jewish descent, and having a parent who is a carrier of the mutated gene.

Is there a cure/medications for Kostmann syndrome?

Yes, there is a cure for Kostmann syndrome. Treatment typically involves the use of medications such as granulocyte colony-stimulating factor (G-CSF) and granulocyte-macrophage colony-stimulating factor (GM-CSF). These medications help to stimulate the production of neutrophils, which are the white blood cells that are deficient in Kostmann syndrome. In some cases, bone marrow transplantation may also be recommended.