What is Kostmann Syndrome

Kostmann Syndrome, also known as severe congenital neutropenia (SCN), is a rare genetic disorder that affects the production of neutrophils, a type of white blood cell crucial for fighting off bacterial infections. Individuals with Kostmann Syndrome have an extremely low count of neutrophils, leaving them highly susceptible to recurrent and severe bacterial infections, particularly in the skin, respiratory tract, and oral cavity.

Symptoms of Kostmann Syndrome typically manifest in infancy and may include fever, skin abscesses, pneumonia, and oral ulcers. Affected individuals often experience delayed growth and development due to frequent infections.

Treatment for Kostmann Syndrome primarily involves the administration of granulocyte colony-stimulating factor (G-CSF), a medication that stimulates the production of neutrophils. Regular G-CSF injections can help increase neutrophil counts and reduce the frequency and severity of infections. In some cases, a bone marrow transplant may be considered as a potential cure.

Early diagnosis and appropriate management are crucial in improving the quality of life for individuals with Kostmann Syndrome. Regular monitoring and preventive measures, such as vaccinations and infection control practices, are essential to minimize the risk of complications.