Kostmann disease

Kostmann syndrome is a very rare immunodeficiency. It is congenital, genetically determined, and occurs in only a few individuals per million.

Diagnosis

The cause is a genetic mutation that disrupts the maturation of neutrophils in the bone marrow. Neutrophils (fully termed neutrophil granulocytes) are the most abundant type of white blood cells and form a primary line of defense against harmful microorganisms.

The normal concentration of neutrophils is approximately 2,000–5,000 per cubic millimeter of blood. In individuals with Kostmann syndrome, due to impaired maturation, only very low numbers of neutrophils are present in the blood (neutropenia), typically below 200 cells per mm³.

Such a marked decrease in neutrophils significantly affects the individual’s immune system. This impaired immunity is associated with numerous and severe bacterial infections already in the neonatal period. Patients develop infections of the upper respiratory tract, pneumonia, urinary tract infections, abscesses in various parts of the body, peritonitis, and there is a constant risk of sepsis.

For diagnosis, a hematological examination is required, including blood sampling. The blood count reveals neutropenia, while other findings are usually within normal limits. A bone marrow sample is also taken, which typically shows no significant abnormalities except for a lack of mature neutrophil forms.

Treatment

Although the disorder itself cannot be cured, modern medicine offers an effective treatment option in the form of colony-stimulating factors (CSF). These agents are administered to the patient to promote the maturation of neutrophils and increase their number in the blood.

In the case of infection, the immune system is supported by the administration of antibiotics. Before the introduction of CSF, mortality was very high in the first months of life; today, the prognosis of affected individuals is significantly improved.

• low levels of neurofilaments
• reduced immunity
• upper respiratory tract infections
• pneumonia
• urinary tract infections
• risk of sepsis
• abscesses in various parts of the body
• peritonitis