Living with X-linked severe congenital neutropenia
A rare inherited immune condition in males, with low infection-fighting white blood cells and repeated bacterial infections.
Understanding X-linked severe congenital neutropenia
People with this condition have repeated major bacterial infections. They also have low monocytes, another type of white blood cell. GARD says it has been described in five males across three generations of one family. Symptoms may begin in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low neutrophil count (a type of white blood cell)
- Low monocyte count (another white blood cell)
- Repeated bacterial 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.
- 3Consider genetic testing
Changes in WAS 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); 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 WAS gene cause this condition. The gene makes the WASP protein, and the condition is passed down in an X-linked recessive way.
Also known as: neutropenia, severe congenital, x-linked, x-linked recessive; scnx; severe congenital neutropenia, x-linked
Patient organizations
- National Neutropenia NetworkX-linked severe congenital neutropenia · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked severe congenital neutropenia.
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