Living with Immunodeficiency 32B
A rare inherited immune condition linked to long-lasting Epstein-Barr virus infection with fever and swollen lymph nodes.
Understanding Immunodeficiency 32B
In chronic active EBV infection, the symptoms of an EBV infection do not go away. Symptoms may be constant or come and go, and tend to get worse over time. It can begin anywhere from childhood to adulthood. Diagnosis needs blood tests showing high EBV DNA for at least 3 months.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fever
- Swollen lymph nodes
- Enlarged liver or spleen
- Poor weight gain (failure to thrive)
- Calcium deposits in the brain
- Infection after BCG vaccine (BCGitis)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Consider genetic testing
Changes in IRF8 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 IRF8 gene are listed. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: caebv (chronic active epstein-barr virus infection) syndrome; caebv syndrome; chronic ebv (epstein-barr virus) infection syndrome; chronic ebv infection syndrome; chronic epstein-barr virus infection syndrome; imd32b
Patient organizations
Rare-disease groups that can help
- 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 Immunodeficiency 32B.
Explore research for Immunodeficiency 32B
Explore actively recruiting Immunodeficiency 32B studies with HealthSpark.
Find actively recruiting studies for Immunodeficiency 32B with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Immunodeficiency 32B studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Immunodeficiency 32B
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Immunodeficiency 32B experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.