Living with X-linked lymphoproliferative syndrome
An inherited immune condition found almost only in males, with strong immune reactions to Epstein-Barr virus and some immune system cancers.
Understanding X-linked lymphoproliferative syndrome
More than half of people have an exaggerated immune response to the Epstein-Barr virus (EBV). This can cause hemophagocytic lymphohistiocytosis (HLH), with fever, damage to bone marrow cells, and liver damage. About one-third have abnormal antibody levels and are prone to infections. About one-third develop lymphomas, cancers of immune cells.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these:
- Strong immune reaction to Epstein-Barr virus
- Fever
- Liver damage
- Abnormal antibody levels and repeated infections
- Lymphoma
- Damage to bone marrow cells
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 Jeffrey Modell Foundation 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 says changes in genes (variants) cause this condition and it follows X-linked inheritance. It doesn't name a gene here.
Also known as: duncan disease; duncan's syndrome; familial fatal epstein-barr infection; lymphoproliferative syndrome, x-linked; purtilo syndrome; severe susceptibility to epstein-barr infection
Patient organizations
- Jeffrey Modell FoundationX-linked lymphoproliferative syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked lymphoproliferative syndrome.
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