Severe congenital neutropenia

Severe congenital neutropenia (SCN) is a rare and severe form of neutropenia that is present from birth. It is characterized by a significant reduction in the number of neutrophils, a type of white blood cell that plays a crucial role in the body's immune response. SCN is associated with an increased risk of recurrent infections, particularly bacterial infections, and a predisposition to the development of leukemia.

The most common form, SCN1, is autosomal dominant.

Kostmann disease, which is SCN3, is inherited in an autosomal recessive pattern.

Causes

SCN is typically caused by mutations in the ELANE gene, which provides instructions for making a protein called neutrophil elastase. This protein is involved in the maturation of neutrophils. Mutations in the ELANE gene disrupt the normal development of neutrophils, leading to the characteristic features of SCN.

Other genes associated with SCN include HAX1, G6PC3, GFI1, and WAS. Mutations in these genes can also disrupt neutrophil development and function, leading to SCN.

Symptoms

The primary symptom of SCN is an increased susceptibility to infections, particularly bacterial infections. These infections can be severe and recurrent, and can affect various parts of the body, including the skin, lungs, and gastrointestinal tract.

Other symptoms of SCN can include anemia, thrombocytopenia, and an enlarged spleen.

Diagnosis

The diagnosis of SCN is based on a complete blood count (CBC) showing a persistent neutropenia, along with a history of recurrent infections. Genetic testing can confirm the diagnosis by identifying mutations in the ELANE gene or other genes associated with SCN.

Treatment

The treatment of SCN typically involves the use of granulocyte colony-stimulating factor (G-CSF), a medication that stimulates the production of neutrophils. In some cases, a bone marrow transplant may be necessary.

Prognosis

The prognosis for individuals with SCN varies. With appropriate treatment, many individuals with SCN can lead normal lives. However, SCN is associated with an increased risk of developing leukemia, which can affect the prognosis.

See also

• Neutropenia
• ELANE
• Granulocyte colony-stimulating factor
• Bone marrow transplant

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