Kostmann syndrome

Kostmann syndrome is a rare condition that affects the body’s ability to produce mature neutrophils, a type of white blood cell. People with this condition have very low neutrophil counts (less than 500 cells/mm3), which can make them more prone to frequent and recurrent bacterial infections such as ear infections, pneumonia, sinusitis, and urinary tract infections. Some individuals may also experience abscesses of the skin or liver, periodontal disease, and even neurological issues including cognitive impairment, severe neurodegeneration, and epilepsy. The condition is congenital, meaning it is present from birth. It is also known by several names including infantile agranulocytosis and severe congenital neutropenia type 3. This summary is based on trusted medical sources that provide a clear definition of the disease and its impacts on blood cells and overall health.

Common symptoms include a very low count of neutrophils, which leads to frequent bacterial infections such as otitis media (ear infections), sinusitis, pneumonia, and urinary tract infections. Additionally, some individuals may experience skin or liver abscesses. There are also reports of periodontal disease and neurological symptoms such as cognitive impairment, severe neurodegeneration, and epilepsy in some patients.

Kostmann syndrome is caused by a genetic mutation that affects the production of mature neutrophils. A mutation in the HAX1 gene has been identified in people with this condition. Because this is a congenital disorder, it is present from birth and is passed down through families in an autosomal recessive pattern.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition. The severity of infections and other complications varies among individuals, and ongoing monitoring is important.

Information about current research is currently limited for this condition.