Kostmann Syndrome (Severe Congenital Neutropenia)
What is Kostmann Syndrome (Severe Congenital Neutropenia)?
Kostmann syndrome is a rare genetic condition where babies are born with very low levels of neutrophils. Neutrophils are a type of white blood cell that fights infections. Without enough neutrophils, the body cannot defend itself against bacteria and fungi.
This condition is also called severe congenital neutropenia. Congenital means present from birth. The word neutropenia means low neutrophil count. Children with Kostmann syndrome typically have fewer than 200 neutrophils per microliter of blood. A healthy range is 1,500 to 8,000.
Most cases are caused by mutations in the HAX1 gene. These mutations prevent the bone marrow from making enough neutrophils. Without treatment, children face frequent and severe infections that can be life-threatening. Modern therapies have dramatically improved outcomes for people living with this condition.
Symptoms
- Frequent bacterial infections starting in the first few months of life
- Skin infections, boils, and abscesses that recur often
- Mouth sores and gum infections that do not heal easily
- Pneumonia and lung infections that require hospitalization
- Ear infections that happen repeatedly
- Fever that comes back frequently without obvious cause
- Delayed wound healing after cuts or injuries
- Infections in the bloodstream that can become severe quickly
Most children show symptoms within the first few weeks to months of life. The severity and frequency of infections distinguish this from milder forms of neutropenia.
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Causes and risk factors
Kostmann syndrome is caused by genetic mutations that affect how bone marrow produces neutrophils. The most common mutation occurs in the HAX1 gene. This gene provides instructions for making a protein that helps neutrophils develop and survive. When the gene does not work properly, neutrophils die before they can mature. The condition is inherited in an autosomal recessive pattern. This means a child must receive one mutated gene from each parent to develop the syndrome.
Parents who carry one copy of the mutation typically have normal neutrophil counts. They do not show symptoms themselves. Each time two carriers have a child together, there is a 25 percent chance the child will have Kostmann syndrome. Some cases involve mutations in other genes like ELANE or G6PC3. Genetic testing can identify the specific mutation in most cases.
How it's diagnosed
Kostmann syndrome is diagnosed through blood tests that measure white blood cell count. Doctors look specifically at the absolute neutrophil count, or ANC. In Kostmann syndrome, the ANC is severely low, usually below 200 cells per microliter. A complete blood count with differential breaks down the types of white blood cells present. This test is repeated multiple times to confirm that neutropenia is persistent and not temporary.
Rite Aid offers White Blood Cell Count testing through our preventive health panel. Regular WBC monitoring is essential for people with Kostmann syndrome who are receiving treatment. Genetic testing confirms the diagnosis by identifying mutations in genes like HAX1. A bone marrow biopsy may also be performed to examine how the bone marrow is producing blood cells.
Treatment options
- Granulocyte colony-stimulating factor, or G-CSF injections, to stimulate neutrophil production
- Daily or several times weekly G-CSF dosing based on blood count response
- Regular blood tests to monitor neutrophil levels and adjust medication doses
- Antibiotics at the first sign of infection to prevent complications
- Prophylactic antibiotics in some cases to reduce infection risk
- Good hygiene practices including handwashing and dental care
- Avoiding crowds during cold and flu season when possible
- Bone marrow transplant for patients who do not respond to G-CSF therapy
- Regular follow-up with a hematologist who specializes in blood disorders
Concerned about Kostmann Syndrome (Severe Congenital Neutropenia)? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Kostmann syndrome is a severe form of congenital neutropenia that is present from birth and caused by genetic mutations. Other types of neutropenia may be temporary, acquired later in life, or less severe. Kostmann syndrome typically requires lifelong treatment with G-CSF to maintain safe neutrophil levels. The neutrophil count in Kostmann syndrome is usually extremely low, below 200 cells per microliter.
People with Kostmann syndrome need frequent blood testing, especially when starting treatment. In the beginning, tests may be needed several times per week to find the right G-CSF dose. Once stable, testing may occur weekly or monthly. Regular monitoring helps doctors adjust medication and catch problems early. Lifelong blood count monitoring is necessary to maintain health.
Bone marrow transplant is the only potential cure for Kostmann syndrome. However, most patients respond well to G-CSF therapy and can live relatively normal lives with daily or weekly injections. Transplant is usually reserved for patients who do not respond to G-CSF or who develop other complications. The decision involves weighing the risks of transplant against the benefits of continued medication.
No, these are different conditions. Kostmann syndrome causes persistent, severe neutropenia from birth. Cyclic neutropenia causes neutrophil levels to drop in a regular cycle, usually every 21 days. People with cyclic neutropenia have periods where their counts are normal. Both conditions can be caused by genetic mutations but involve different genes and patterns.
Bacterial infections are most common because neutrophils fight bacteria. Skin infections, mouth sores, and gum disease occur frequently. Pneumonia and ear infections are also common. Infections can progress quickly and become severe without prompt treatment. Fungal infections may also occur when neutrophil counts are very low.
G-CSF is given as a subcutaneous injection under the skin, similar to insulin injections. Most patients or their caregivers learn to give the injections at home. The dose and frequency depend on how the body responds. Some people need daily injections while others need them a few times per week.
No, Kostmann syndrome is a congenital condition that is present from birth. Symptoms usually appear in the first few weeks or months of life. Adults can develop other forms of neutropenia from medications, autoimmune conditions, or other causes. These acquired neutropenias are different from the genetic form seen in Kostmann syndrome.
Without treatment, Kostmann syndrome is life-threatening. Severe infections can lead to sepsis, organ damage, or death. Before G-CSF therapy became available, many children with this condition did not survive past early childhood. Modern treatment with G-CSF has dramatically improved survival rates and quality of life.
While diet does not treat the underlying neutropenia, good nutrition supports overall immune function. Eating a balanced diet with adequate protein helps the body respond to treatment. Some doctors recommend avoiding raw or undercooked foods to reduce infection risk. Staying hydrated and maintaining good oral hygiene are also important.
Yes, with proper treatment, most people with Kostmann syndrome can attend school and work. Regular G-CSF therapy helps maintain safe neutrophil levels that allow for normal activities. Some precautions may be needed during illness outbreaks. Communication with schools or employers about infection prevention can help create a supportive environment.