Living with X-linked lymphoproliferative disease due to XIAP deficiency
An inherited immune condition in males that can cause fevers, inflammatory bowel disease, and strong immune reactions to a common virus.
Understanding X-linked lymphoproliferative disease due to XIAP deficiency
XLP2 is most often marked by HLH (an overactive immune reaction, often tied to EBV), abnormal antibody levels, and inflammatory bowel disease. It can begin at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated fevers
- Crohn's disease and other bowel inflammation
- Weak immune function
- Enlarged spleen
- Low blood cell counts
- Liver inflammation
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in XIAP 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); Digestive system specialists (gastroenterologists); 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
This condition is caused by changes in the XIAP gene and follows X-linked inheritance.
Also known as: lymphoproliferative syndrome, x-linked, 2, x-linked recessive; lymphoproliferative syndrome, x-linked, type 2; x-linked lymphoproliferative syndrome type 2; xiap deficiency; xiap deficiency syndrome; xiap deficiency/xlps
Patient organizations
- Jeffrey Modell FoundationX-linked lymphoproliferative disease due to XIAP deficiency · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked lymphoproliferative disease due to XIAP deficiency.
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