Living with Autosomal dominant severe congenital neutropenia
A genetic blood condition with low neutrophils, a type of white blood cell, leading to repeated infections.
Understanding Autosomal dominant severe congenital neutropenia
Signs usually start in the newborn period or infancy. With low neutrophil counts, people can get infections again and again, such as in the skin, ears, sinuses, lungs, and gut. Mouth and gum problems are also common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low neutrophil count in the blood
- Repeated bacterial infections
- Fever
- Mouth ulcers and canker sores
- Inflamed gums (gingivitis, periodontitis)
- Pneumonia and ear, sinus, or skin infections
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
Changes in genes (also called variants) cause this condition. It is autosomal dominant, so a change in one copy of a gene can cause it. GARD does not name a gene here.
Also known as: severe congenital neutropenia, autosomal dominant
Patient organizations
- National Neutropenia NetworkAutosomal dominant severe congenital neutropenia · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant severe congenital neutropenia.
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