Living with Kostmann syndrome
A rare condition from birth with very low levels of infection-fighting white blood cells, leading to frequent bacterial infections.
Understanding Kostmann syndrome
Low neutrophils lead to frequent bacterial infections such as ear infections, pneumonia, sinus infections, urinary tract infections, and skin or liver abscesses. Gum disease has also been reported. Some people have neurological features such as cognitive impairment and epilepsy. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low neutrophil count
- Repeated bacterial infections
- Developmental delay
- Intellectual disability
- Hearing loss
- Clumsiness
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in HAX1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Neutropenia Network and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HAX1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive severe congenital neutropenia type 3; infantile agranulocytosis; kostmann disease; neutropenia, severe congenital 3, autosomal recessive; scn3; severe congenital neutropenia type 3
Patient organizations
- National Neutropenia NetworkKostmann syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Kostmann syndrome.
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