What is Severe congenital neutropenia

Severe congenital neutropenia (SCN) is a rare genetic disorder characterized by an extremely low number of neutrophils, a type of white blood cell that plays a crucial role in fighting off bacterial infections. Individuals with SCN have a weakened immune system, making them highly susceptible to recurrent and severe bacterial infections.

SCN is typically diagnosed in infancy or early childhood, as affected individuals often experience frequent infections, including respiratory tract infections, skin abscesses, and oral ulcers. These infections can be life-threatening if not promptly treated.

The underlying cause of SCN is usually a mutation in a gene involved in the production or function of neutrophils. In some cases, the condition may be inherited in an autosomal recessive manner, meaning both parents carry a copy of the mutated gene. However, in other instances, SCN may occur sporadically without a family history.

Treatment for SCN primarily focuses on managing infections and boosting neutrophil counts. This may involve the use of antibiotics to treat and prevent infections, as well as medications to stimulate the production of neutrophils. In severe cases, a bone marrow transplant may be considered as a potential cure. Regular monitoring and close medical supervision are essential to ensure optimal management of SCN and prevent complications.