Living with Lymphoproliferative syndrome 1
A rare inherited immune condition in which the body can't control Epstein-Barr virus, leading to long-lasting mono-like illness.
Understanding Lymphoproliferative syndrome 1
These include abnormal growth of immune cells and lymphomas. People have lasting symptoms like infectious mononucleosis, including repeated fevers, swollen lymph nodes, and an enlarged liver and spleen, with high EBV levels in the blood. Autoimmune problems like hemolytic anemia or kidney disease can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated fevers
- Enlarged liver (hepatomegaly)
- Autoimmune hemolytic anemia
- Autoimmune low platelets
- B-cell lymphoma
- Fluid around the heart
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, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in ITK 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); Cancer specialists (oncologists); 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 Immune Deficiency Foundation
- 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
It is caused by changes in the ITK gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: autosomal recessive lymphoproliferative disease due to itk deficiency; combined immunodeficiency due to il2 inducible t cell kinase deficiency; combined immunodeficiency due to interleukin-2 inducible t cell kinase deficiency; combined immunodeficiency due to itk deficiency; itk deficiency; itk lymphoproliferative syndrome
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lymphoproliferative syndrome 1.
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