Overview
Mendelian susceptibility to mycobacterial diseases, often called MSMD, is a rare inherited immune disorder that makes people unusually vulnerable to infections caused by mycobacteria. Mycobacteria are a group of bacteria that includes the germ that causes tuberculosis (TB) as well as many related bacteria found in the environment, called nontuberculous mycobacteria (NTM). People with MSMD can also get seriously ill from weakened, vaccine-strain bacteria used in the BCG tuberculosis vaccine, which is harmless to most people. The immune system normally fights off these germs easily, but in MSMD, a key part of the immune defense — a communication pathway between immune cells involving proteins called interferon-gamma and interleukin-12 — does not work properly. The disease usually shows up in childhood, often after a BCG vaccination or after exposure to environmental mycobacteria. Symptoms include repeated or severe infections that are hard to treat, swollen lymph nodes, fever, weight loss, and lung problems. Some people also develop infections with Salmonella bacteria or certain viruses. The severity varies widely depending on which gene is affected and how severely it is disrupted. Treatment focuses on long-term antibiotics and antifungal or antiviral medicines to control infections. In some cases, interferon-gamma injections are used to boost the immune system. For the most severe forms, a bone marrow transplant (stem cell transplant) can be curative. Early diagnosis is critical because untreated infections can be life-threatening.
Also known as:
Key symptoms:
Severe or repeated infections with mycobacteria (including TB-related bacteria)Serious illness after BCG tuberculosis vaccinationSwollen lymph nodes, especially in the neck or armpitsPersistent feverUnexplained weight loss or poor weight gain in childrenChronic cough or lung infectionsSkin sores or abscesses that are slow to healBone infections (osteomyelitis)Repeated Salmonella infections in the gut or bloodstreamFatigue and general feeling of being unwellInfections that do not respond well to standard antibiotics
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventArikayce: FDA approved
Treatment of Mycobacterium avium complex (MAC) lung disease as part of a combination antibacterial drug regimen in patients who do not achieve negative sputum cultures after a minimum of 6 consecutive months of a multidrug background regimen therapy
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Mendelian susceptibility to mycobacterial diseases.
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Rare Disease Specialist
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.
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene is causing my (or my child's) MSMD, and what does that mean for how severe the disease will be?,What long-term antibiotic or other medicines will be needed, and what side effects should I watch for?,Is interferon-gamma treatment an option for us, and how would it be given?,Should we consider a bone marrow transplant, and if so, when would be the right time?,Are other family members at risk, and should they be tested?,What vaccines are safe to give, and which ones must be avoided?,Are there any clinical trials or new treatments we should know about?
Common questions about Mendelian susceptibility to mycobacterial diseases
What is Mendelian susceptibility to mycobacterial diseases?
Mendelian susceptibility to mycobacterial diseases, often called MSMD, is a rare inherited immune disorder that makes people unusually vulnerable to infections caused by mycobacteria. Mycobacteria are a group of bacteria that includes the germ that causes tuberculosis (TB) as well as many related bacteria found in the environment, called nontuberculous mycobacteria (NTM). People with MSMD can also get seriously ill from weakened, vaccine-strain bacteria used in the BCG tuberculosis vaccine, which is harmless to most people. The immune system normally fights off these germs easily, but in MSMD,
At what age does Mendelian susceptibility to mycobacterial diseases typically begin?
Typical onset of Mendelian susceptibility to mycobacterial diseases is childhood. Age of onset can vary across affected individuals.
Which specialists treat Mendelian susceptibility to mycobacterial diseases?
16 specialists and care centers treating Mendelian susceptibility to mycobacterial diseases are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.