Overview
Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial deficiency (sometimes called 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), as well as the BCG vaccine strain given to prevent TB. In people with this condition, the immune system's ability to fight these specific germs is weakened because of a partial defect in a key signaling pathway — most often the interferon-gamma (IFN-γ) pathway. Because the deficiency is only partial rather than complete, the immune system still works to some degree, which generally means the disease is less severe than the complete form, but patients still experience recurrent or unusually severe mycobacterial infections. Symptoms typically begin in childhood and can include persistent fevers, swollen lymph nodes, lung infections, bone infections, and skin lesions caused by mycobacteria. Some patients may also develop infections with other intracellular organisms such as Salmonella. The severity varies from person to person. Treatment focuses on aggressive and prolonged antibiotic therapy against the specific mycobacterial infection, and in many cases, supplemental interferon-gamma injections (Actimmune) are used to boost the immune response. With appropriate treatment, many patients with the partial form have a better outlook than those with complete deficiency, though lifelong vigilance against infections is necessary.
Also known as:
Key symptoms:
Recurrent or severe infections from usually harmless environmental bacteria (nontuberculous mycobacteria)Severe reaction to BCG vaccinationPersistent or unexplained feversSwollen lymph nodes that do not go awayChronic lung infections or pneumoniaBone infections (osteomyelitis)Skin sores or abscesses that heal slowlySalmonella infections that keep coming backWeight loss or failure to thrive in childrenFatigue and general feeling of being unwellLiver or spleen enlargementGranulomas (small areas of inflammation) in various organs
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial 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
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.Which specific gene mutation is causing my (or my child's) condition, and what does that mean for severity?,Should interferon-gamma therapy be started, and how long will it need to continue?,What antibiotics will be needed, and for how long?,Are there any vaccines my child should avoid besides BCG?,What signs of infection should prompt an emergency room visit?,Is bone marrow transplantation something we should consider, and what are the risks?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
What is Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency?
Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial deficiency (sometimes called 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), as well as the BCG vaccine strain given to prevent TB. In people with this condition, the immune system's ability to fight these specific germs is weakened because of a partial defect in a key signal
How is Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency inherited?
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial 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 partial deficiency typically begin?
Typical onset of Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency is childhood. Age of onset can vary across affected individuals.