Living with BENTA disease
A very rare genetic immune condition with an enlarged spleen and frequent infections early in life.
Understanding BENTA disease
Main signs are an enlarged spleen and frequent ear, sinus, and lung infections early in life. Some people have molluscum contagiosum (a skin infection) or a long-lasting Epstein-Barr virus (EBV) infection. Blood tests show very high numbers of B cells, few memory B cells, low IgM, and weak responses to some vaccines. It can begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged spleen (splenomegaly)
- High number of B cells (a type of white blood cell)
- Enlarged lymph tissue (lymphoid hyperplasia)
- Repeated 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 CARD11 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 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
Changes in the CARD11 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: b-cell expansion with nf-kb and t-cell anergy disease; b-cell expansion with nfkb and t-cell anergy; b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy disease; benta (b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy) disease
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 BENTA disease.
Explore research for BENTA disease
Explore actively recruiting BENTA disease studies with HealthSpark.
Find actively recruiting studies for BENTA disease 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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