Overview
Combined immunodeficiency due to IKBKB deficiency is a very rare inherited disorder of the immune system. It is caused by mutations in the IKBKB gene (also called IKK2 or IKKβ), which plays a critical role in a signaling pathway called NF-κB. This pathway is essential for the normal development and function of immune cells, particularly T cells and B cells, which are the body's main defenders against infections. Children with this condition are typically born appearing healthy but begin to develop severe, recurrent, and unusual infections in the first months of life. These infections can involve the lungs, skin, gut, and other organs, and may be caused by bacteria, viruses, fungi, or organisms that would not normally cause illness in a healthy person (called opportunistic infections). Affected children often have very low or absent antibody levels and poorly functioning T cells, leaving them highly vulnerable to infections. Without treatment, this condition is life-threatening. The most effective treatment is hematopoietic stem cell transplantation (bone marrow transplant), which can rebuild a functioning immune system. Supportive care includes antibiotics, antifungal medications, immunoglobulin replacement therapy, and strict infection prevention measures. Early diagnosis through newborn screening programs that detect T-cell deficiencies (such as TREC-based screening) has improved outcomes by allowing treatment before severe infections occur.
Also known as:
Key symptoms:
Frequent and severe infections starting in infancyRecurrent pneumonia or lung infectionsChronic diarrheaSkin infections or rashesOral thrush that keeps coming backFailure to gain weight or grow properlyInfections caused by unusual organisms (opportunistic infections)Swollen lymph nodesFever that keeps returningBloodstream infections (sepsis)Low levels of antibodies in the bloodDelayed development due to chronic illness
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 IKBKB deficiency.
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Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to IKBKB 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 IKBKB deficiency.
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Caregiver Resources
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Family & Caregiver Grants
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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 immune cells are affected?,Is my child a candidate for bone marrow transplant, and when should it ideally be done?,What steps should we take right now to protect my child from infections?,Will my child need immunoglobulin replacement therapy, and how is it given?,Are there any clinical trials or emerging therapies, such as gene therapy, that might be relevant?,What are the risks and expected outcomes of bone marrow transplant for this specific condition?,Should our other children or future pregnancies be tested for this condition?
Common questions about Combined immunodeficiency due to IKBKB deficiency
What is Combined immunodeficiency due to IKBKB deficiency?
Combined immunodeficiency due to IKBKB deficiency is a very rare inherited disorder of the immune system. It is caused by mutations in the IKBKB gene (also called IKK2 or IKKβ), which plays a critical role in a signaling pathway called NF-κB. This pathway is essential for the normal development and function of immune cells, particularly T cells and B cells, which are the body's main defenders against infections. Children with this condition are typically born appearing healthy but begin to develop severe, recurrent, and unusual infections in the first months of life. These infections can invo
How is Combined immunodeficiency due to IKBKB deficiency inherited?
Combined immunodeficiency due to IKBKB 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 IKBKB deficiency typically begin?
Typical onset of Combined immunodeficiency due to IKBKB deficiency is infantile. Age of onset can vary across affected individuals.