Overview
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency is an extremely rare inherited immune disorder. It is caused by the complete lack of a protein called ISG15 (interferon-stimulated gene 15), which plays an important role in helping the body fight off certain infections, particularly mycobacteria. Mycobacteria are a family of germs that include the bacteria causing tuberculosis (TB) and a group of related organisms called non-tuberculous mycobacteria (NTM), as well as the BCG vaccine strain. People with this condition are unusually vulnerable to infections caused by mycobacteria, including severe reactions to the BCG vaccine, which is routinely given in many countries to prevent tuberculosis. The disease typically appears in early childhood, often after BCG vaccination, and can cause widespread or life-threatening mycobacterial infections. Interestingly, patients with complete ISG15 deficiency also show features related to abnormal interferon signaling, which can lead to brain calcifications and sometimes seizures, resembling a condition called Aicardi-Goutières syndrome. Treatment focuses on aggressive antibiotic therapy to control mycobacterial infections and, in some cases, interferon-gamma supplementation to boost the immune response. Avoiding BCG vaccination is critical for known carriers and affected individuals. Early diagnosis through genetic testing can be life-saving, as it allows doctors to take preventive measures and start treatment promptly.
Also known as:
Key symptoms:
Severe reaction to BCG vaccinationRecurrent or widespread mycobacterial infectionsProlonged feversSwollen lymph nodesSkin lesions or abscesses from mycobacterial infectionBrain calcifications (calcium deposits in the brain)SeizuresFailure to thrive or poor weight gain in infancyBone infections caused by mycobacteriaLung infectionsFatigue and general weaknessEnlarged liver or spleen
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 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 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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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Should my child avoid any vaccines besides BCG?,How long will my child need to take antibiotics, and what side effects should I watch for?,Is interferon-gamma therapy appropriate for my child, and how do we access it?,What neurological monitoring does my child need, and how often?,Should other family members be genetically tested?,Are there any clinical trials or new treatments being studied for this condition?,What emergency signs should prompt me to go to the hospital immediately?
Common questions about Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
What is Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency?
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency is an extremely rare inherited immune disorder. It is caused by the complete lack of a protein called ISG15 (interferon-stimulated gene 15), which plays an important role in helping the body fight off certain infections, particularly mycobacteria. Mycobacteria are a family of germs that include the bacteria causing tuberculosis (TB) and a group of related organisms called non-tuberculous mycobacteria (NTM), as well as the BCG vaccine strain. People with this condition are unusually vulnerable to infections cau
How is Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency inherited?
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency typically begin?
Typical onset of Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency is infantile. Age of onset can vary across affected individuals.