Living with Severe congenital neutropenia
An inherited condition with too few infection-fighting white blood cells (neutrophils), causing frequent infections from infancy.
Understanding Severe congenital neutropenia
The shortage is apparent at birth or soon after. It leads to frequent infections beginning in infancy, such as of the sinuses, lungs, and liver. Gum and skin inflammation and fevers can occur. About 40 percent have lower bone density, and about 20 percent develop certain blood cancers, such as myelodysplastic syndrome or leukemia, during adolescence. Some also have seizures, delays, or heart and genital differences.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these:
- Frequent infections from infancy
- Fevers
- Inflamed gums (gingivitis)
- Skin inflammation
- Low bone density
- Seizures or developmental delay in some people
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); 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
GARD lists autosomal dominant, autosomal recessive, and X-linked inheritance. It does not name a gene in this record.
Also known as: neutropenia, severe congenital; scn; severe chronic neutropenia; severe infantile genetic neutropenia
Patient organizations
- National Neutropenia NetworkSevere congenital neutropenia · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Severe congenital neutropenia.
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