Overview
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency (also called complete interleukin-12 subunit p40 deficiency) is a very rare inherited immune disorder. It affects the body's ability to fight off certain types of infections, particularly those caused by mycobacteria — a family of germs that includes the bacteria responsible for tuberculosis (TB) and a group of related organisms called nontuberculous mycobacteria (NTM). The disease also increases vulnerability to certain other infections, including Salmonella and some fungal infections. In this condition, the body cannot produce a protein called interleukin-12 p40 (IL-12p40), which is a critical signaling molecule in the immune system. IL-12p40 is part of both IL-12 and IL-23, two important immune messengers that help activate certain white blood cells (especially T cells and natural killer cells) to produce interferon-gamma. Interferon-gamma is essential for killing mycobacteria and similar germs inside immune cells called macrophages. Without IL-12p40, this defense pathway is severely weakened. Children with this condition typically develop severe or recurrent infections with BCG (the tuberculosis vaccine strain), environmental mycobacteria, Salmonella, or other unusual organisms, often starting in infancy or early childhood. Treatment focuses on aggressive antibiotic therapy for infections and long-term preventive use of interferon-gamma injections to help restore the missing immune signaling. With proper management, many patients can lead improved lives, though lifelong vigilance against infections is necessary.
Also known as:
Key symptoms:
Severe or widespread BCG infection after vaccinationRecurrent infections with tuberculosis-like bacteriaInfections with nontuberculous mycobacteria (environmental mycobacteria)Recurrent Salmonella infectionsPersistent feversSwollen lymph nodes that do not resolveSkin abscesses or draining woundsBone infections (osteomyelitis)Lung infections that keep coming backPoor weight gain or failure to thriveChronic diarrhea from gut infectionsFungal infections such as candidiasisLiver or spleen enlargement
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 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency.
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Specialists
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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 Mendelian susceptibility to mycobacterial diseases due to complete IL12B 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.Should my child receive interferon-gamma therapy, and how is it given?,Which vaccinations are safe and which should be avoided?,What signs of infection should prompt me to seek emergency care?,Is bone marrow transplantation an option for my child, and what are the risks?,How often will my child need blood tests and follow-up visits?,Are other family members at risk, and should they be tested?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
What is Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency?
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency (also called complete interleukin-12 subunit p40 deficiency) is a very rare inherited immune disorder. It affects the body's ability to fight off certain types of infections, particularly those caused by mycobacteria — a family of germs that includes the bacteria responsible for tuberculosis (TB) and a group of related organisms called nontuberculous mycobacteria (NTM). The disease also increases vulnerability to certain other infections, including Salmonella and some fungal infections. In this condition, the
How is Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency inherited?
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency typically begin?
Typical onset of Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency is infantile. Age of onset can vary across affected individuals.