Overview
BENTA disease stands for B-cell Expansion with NF-κB and T-cell Anergy. It is an extremely rare genetic disorder of the immune system caused by mutations in the CARD11 gene. This condition leads to an abnormal increase in a type of white blood cell called B cells, while at the same time the T cells (another important type of immune cell) do not work properly. The disease is present from birth or early infancy. People with BENTA disease typically have enlarged spleens (splenomegaly), swollen lymph nodes, and very high numbers of B cells in their blood. Because their immune system does not function correctly, they may be more prone to infections and may have a higher risk of developing certain blood cancers, particularly B-cell lymphoma, later in life. Some patients also experience allergies and other immune-related problems. There is currently no cure for BENTA disease. Treatment focuses on managing symptoms, preventing infections, and monitoring for signs of cancer. Doctors may use medications to support the immune system or reduce the number of abnormal B cells. Because the disease is so rare, treatment plans are often individualized based on each patient's specific symptoms and needs. Regular follow-up with immunology specialists is essential for long-term management.
Also known as:
Key symptoms:
Enlarged spleen (splenomegaly)Swollen lymph nodes throughout the bodyVery high numbers of B cells in the bloodFrequent or unusual infectionsT cells that do not respond properly to threatsEar infections that keep coming backAllergies or allergic-type reactionsFatigue and low energyIncreased risk of B-cell lymphomaPossible autoimmune problemsPoor antibody responses to vaccines
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
1 availableCerezyme
treatment of non-central nervous system (CNS) manifestations of Type 1 or Type 3 Gaucher disease in adults and pediatric patients
Clinical Trials
View all trials with filters →No actively recruiting trials found for BENTA disease at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to BENTA disease.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How often should my child have blood tests and cancer screening?,Does my child need immunoglobulin replacement therapy or preventive antibiotics?,Are there any activities or sports my child should avoid because of an enlarged spleen?,What signs of infection or lymphoma should I watch for at home?,Should other family members be tested for the CARD11 mutation?,Are there any clinical trials or new treatments being studied for BENTA disease?,How will this condition affect my child's ability to attend school and participate in normal activities?
Common questions about BENTA disease
What is BENTA disease?
BENTA disease stands for B-cell Expansion with NF-κB and T-cell Anergy. It is an extremely rare genetic disorder of the immune system caused by mutations in the CARD11 gene. This condition leads to an abnormal increase in a type of white blood cell called B cells, while at the same time the T cells (another important type of immune cell) do not work properly. The disease is present from birth or early infancy. People with BENTA disease typically have enlarged spleens (splenomegaly), swollen lymph nodes, and very high numbers of B cells in their blood. Because their immune system does not func
How is BENTA disease inherited?
BENTA disease follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does BENTA disease typically begin?
Typical onset of BENTA disease is neonatal. Age of onset can vary across affected individuals.
Which specialists treat BENTA disease?
1 specialists and care centers treating BENTA disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.