Overview
Autosomal dominant Mendelian susceptibility to mycobacterial diseases due to partial deficiency (often called partial MSMD or AD partial MSMD) is a rare inherited immune disorder that makes a person unusually vulnerable to infections caused by mycobacteria. Mycobacteria include the germs that cause tuberculosis (TB) and a group of usually harmless environmental bacteria called nontuberculous mycobacteria (NTM), such as BCG (the live vaccine strain used against TB in many countries). In people with this condition, the immune signaling pathway involving interferon-gamma (IFN-γ) does not work at full strength, but it is not completely absent. This means the body can still fight infections to some degree, but not well enough to handle mycobacteria effectively. People with this condition typically develop severe or recurring infections after BCG vaccination or after exposure to environmental mycobacteria. Symptoms often begin in childhood and can include persistent fevers, swollen lymph nodes, lung infections, bone infections, and skin lesions. Because the immune defect is partial rather than complete, the disease tends to be less severe than the complete deficiency forms, and patients generally respond better to treatment. Treatment usually involves long-term antibiotic therapy targeted at the specific mycobacterial infection. In some cases, supplemental interferon-gamma injections (Actimmune) may be used to boost the immune response. With appropriate treatment, many patients can manage their infections effectively, though lifelong vigilance against mycobacterial exposure is important. Early diagnosis through genetic testing and awareness of the condition can significantly improve outcomes.
Also known as:
Key symptoms:
Severe or persistent infection after BCG vaccinationRecurring infections with environmental mycobacteriaPersistent or unexplained feversSwollen lymph nodes that do not resolveChronic lung infections or pneumoniaBone infections (osteomyelitis)Skin nodules or abscessesWeight loss or failure to thrive in childrenFatigue and general weaknessTuberculosis that is unusually severe or hard to treatInfections that keep coming back despite treatmentGranulomas (clusters of immune cells) in affected tissues
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial 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 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency.
Community
No community posts yet. Be the first to share your experience with Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency.
Start the conversation →Latest news about Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
No recent news articles for Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency.
Follow this condition to be notified when news becomes available.
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.Which specific gene mutation is causing my (or my child's) condition, and what does it mean for severity?,Should my child avoid BCG vaccination, and are there other vaccines to be cautious about?,How long will antibiotic treatment need to continue, and what are the side effects?,Would interferon-gamma therapy be helpful in my case?,What signs of infection should I watch for at home that would need urgent medical attention?,Should other family members be tested for this genetic condition?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
What is Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency?
Autosomal dominant Mendelian susceptibility to mycobacterial diseases due to partial deficiency (often called partial MSMD or AD partial MSMD) is a rare inherited immune disorder that makes a person unusually vulnerable to infections caused by mycobacteria. Mycobacteria include the germs that cause tuberculosis (TB) and a group of usually harmless environmental bacteria called nontuberculous mycobacteria (NTM), such as BCG (the live vaccine strain used against TB in many countries). In people with this condition, the immune signaling pathway involving interferon-gamma (IFN-γ) does not work at
How is Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency inherited?
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency typically begin?
Typical onset of Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency is childhood. Age of onset can vary across affected individuals.