Overview
X-linked Mendelian susceptibility to mycobacterial diseases (X-linked MSMD) is a rare inherited immune disorder that makes affected individuals highly vulnerable to infections caused by mycobacteria. Mycobacteria are a group of germs that include the bacteria causing tuberculosis (TB) and a related group called nontuberculous mycobacteria (NTM), which are usually harmless to people with normal immune systems. In people with this condition, the immune system cannot properly fight off these specific types of infections. The disease is caused by mutations in genes located on the X chromosome, which means it primarily affects boys and men, while females are usually carriers who do not show symptoms. The condition typically appears in childhood, often after vaccination with BCG (a live vaccine against tuberculosis used in many countries) or after exposure to environmental mycobacteria. Affected children may develop severe, widespread, or recurring mycobacterial infections that can involve the lymph nodes, lungs, bones, skin, and other organs. Some patients may also be more susceptible to certain other infections, including salmonella and some fungal or viral infections. Treatment focuses on aggressive and prolonged antibiotic therapy to control mycobacterial infections, along with immune-boosting treatments such as interferon-gamma (IFN-γ) therapy in some cases. In severe situations, bone marrow transplantation (hematopoietic stem cell transplant) may be considered as a potentially curative option. Early diagnosis and ongoing management by immunology specialists are essential to improve outcomes.
Also known as:
Key symptoms:
Severe or widespread tuberculosis-like infectionsRecurring infections with normally harmless mycobacteriaSwollen lymph nodes that do not respond to standard treatmentSevere reaction to BCG vaccinationPersistent feversWeight loss or failure to thrive in childrenLung infections that keep coming backBone infections (osteomyelitis)Skin lesions or abscessesLiver or spleen enlargementInfections caused by salmonella bacteriaChronic fatigue and weakness
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for X-linked 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 X-linked mendelian susceptibility to mycobacterial diseases.
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene mutation does my child have, and how does it affect the immune system?,What infections should we be most worried about, and how can we prevent them?,Will my child need lifelong antibiotics, and what are the long-term side effects?,Is interferon-gamma therapy appropriate for my child's specific type of MSMD?,Should we consider bone marrow transplantation, and what are the risks and benefits?,Are other family members at risk, and should they be tested?,What vaccinations are safe and which ones must be avoided?
Common questions about X-linked mendelian susceptibility to mycobacterial diseases
What is X-linked mendelian susceptibility to mycobacterial diseases?
X-linked Mendelian susceptibility to mycobacterial diseases (X-linked MSMD) is a rare inherited immune disorder that makes affected individuals highly vulnerable to infections caused by mycobacteria. Mycobacteria are a group of germs that include the bacteria causing tuberculosis (TB) and a related group called nontuberculous mycobacteria (NTM), which are usually harmless to people with normal immune systems. In people with this condition, the immune system cannot properly fight off these specific types of infections. The disease is caused by mutations in genes located on the X chromosome, whi
How is X-linked mendelian susceptibility to mycobacterial diseases inherited?
X-linked mendelian susceptibility to mycobacterial diseases follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked mendelian susceptibility to mycobacterial diseases typically begin?
Typical onset of X-linked mendelian susceptibility to mycobacterial diseases is childhood. Age of onset can vary across affected individuals.
Which specialists treat X-linked mendelian susceptibility to mycobacterial diseases?
1 specialists and care centers treating X-linked mendelian susceptibility to mycobacterial diseases are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.