Overview
Autosomal recessive complete deficiency causing mendelian susceptibility to mycobacterial diseases (also called complete AR-MSMD) is a very rare inherited immune system disorder. It affects the body's ability to fight off certain bacteria called mycobacteria. These include the bacteria that cause tuberculosis, as well as weakened forms of the bacteria used in the BCG vaccine given to many newborns. In healthy people, the immune system easily controls these germs. In people with this condition, the immune system is missing a key signaling protein — most often interferon-gamma (IFN-γ) or one of its receptor components — which means the body cannot mount a proper defense. Children with this condition often become seriously ill after receiving the BCG vaccine or after exposure to environmental mycobacteria that would not normally cause disease. They may also develop infections from Salmonella and other bacteria. Symptoms usually appear in early childhood and can be life-threatening without treatment. Treatment focuses on long-term antibiotics and antifungal medicines to prevent and control infections. In some cases, a bone marrow (stem cell) transplant can offer a potential cure by replacing the faulty immune cells with healthy ones. Without treatment, this condition is very serious, but with careful medical management, many children can be helped.
Also known as:
Key symptoms:
Severe or repeated infections with mycobacteria (including BCG vaccine bacteria and environmental mycobacteria)Tuberculosis-like illness even without exposure to someone with TBSwollen lymph nodes, especially after BCG vaccinationRecurring feversUnexplained weight loss or poor weight gain in infantsFatigue and general weaknessSalmonella infections in the bloodstreamLung infections that are hard to treatSkin sores or abscessesEnlarged liver or spleenInfections that do not respond to standard antibiotics
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 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete 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
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene is causing my child's condition, and what does that mean for treatment options?,Is my child a candidate for a bone marrow transplant, and what are the risks and benefits?,Which vaccines are safe for my child, and which ones must be avoided?,What antibiotics will my child need long-term, and how will we monitor for side effects?,What signs of infection should prompt an emergency room visit versus a call to the clinic?,Should other family members be tested for this gene change?,Are there any clinical trials or new treatments we should consider?
Common questions about Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
What is Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency?
Autosomal recessive complete deficiency causing mendelian susceptibility to mycobacterial diseases (also called complete AR-MSMD) is a very rare inherited immune system disorder. It affects the body's ability to fight off certain bacteria called mycobacteria. These include the bacteria that cause tuberculosis, as well as weakened forms of the bacteria used in the BCG vaccine given to many newborns. In healthy people, the immune system easily controls these germs. In people with this condition, the immune system is missing a key signaling protein — most often interferon-gamma (IFN-γ) or one of
How is Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency inherited?
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency typically begin?
Typical onset of Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency is infantile. Age of onset can vary across affected individuals.