Overview
Combined immunodeficiency due to CARD11 deficiency is a rare inherited disorder of the immune system. CARD11 (also called CARMA1) is a protein that plays a critical role in helping immune cells, particularly T cells and B cells, activate and function properly. When both copies of the CARD11 gene are not working correctly, the immune system cannot mount effective responses against infections. This leads to a condition known as combined immunodeficiency, meaning both the T cell and B cell arms of the immune system are impaired. Children with this condition typically present early in life with severe, recurrent, and sometimes life-threatening infections. These infections can involve the lungs, skin, gut, and other organs, and may be caused by bacteria, viruses, fungi, or opportunistic organisms that would not normally cause disease in healthy individuals. Affected children may also have trouble gaining weight and growing properly. The treatment landscape for this condition centers on preventing and treating infections, replacing missing immune components, and ultimately pursuing hematopoietic stem cell transplantation (bone marrow transplant), which is currently the only potentially curative option. Without treatment, the disease can be fatal in early childhood. Early diagnosis through newborn screening programs that detect low T cell numbers (using the TREC assay) has improved outcomes by allowing earlier intervention.
Also known as:
Key symptoms:
Frequent and severe infectionsRecurrent pneumonia or lung infectionsChronic diarrheaSkin infections or rashesThrush (oral yeast infections) that keeps coming backFailure to gain weight or grow normallyInfections caused by unusual organisms (opportunistic infections)Low levels of antibodies in the bloodLow numbers of T cells and B cellsEnlarged lymph nodes or spleen may be absentDelayed development due to chronic illnessSevere viral infections such as persistent cytomegalovirus or Epstein-Barr virus
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Combined immunodeficiency due to CARD11 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to CARD11 deficiency.
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 Combined immunodeficiency due to CARD11 deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 severe is my child's immune deficiency, and what specific infections are they most at risk for?,Is my child a candidate for bone marrow transplant, and when should it ideally be done?,What preventive medications does my child need, and what are the side effects?,How often will my child need immunoglobulin replacement therapy?,What signs of infection should prompt me to seek emergency care immediately?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested to see if they are carriers of the CARD11 mutation?
Common questions about Combined immunodeficiency due to CARD11 deficiency
What is Combined immunodeficiency due to CARD11 deficiency?
Combined immunodeficiency due to CARD11 deficiency is a rare inherited disorder of the immune system. CARD11 (also called CARMA1) is a protein that plays a critical role in helping immune cells, particularly T cells and B cells, activate and function properly. When both copies of the CARD11 gene are not working correctly, the immune system cannot mount effective responses against infections. This leads to a condition known as combined immunodeficiency, meaning both the T cell and B cell arms of the immune system are impaired. Children with this condition typically present early in life with s
How is Combined immunodeficiency due to CARD11 deficiency inherited?
Combined immunodeficiency due to CARD11 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined immunodeficiency due to CARD11 deficiency typically begin?
Typical onset of Combined immunodeficiency due to CARD11 deficiency is infantile. Age of onset can vary across affected individuals.