Overview
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency (sometimes called partial STAT1 deficiency or MSMD due to partial STAT1 deficiency) is a rare inherited immune disorder. In this condition, the STAT1 protein — which plays a key role in how your immune system fights infections — does not work as well as it should, but it still has some function (hence "partial" deficiency). This means the body has a harder time defending itself against certain types of bacteria called mycobacteria. Mycobacteria include the germs that cause tuberculosis (TB) and a group of related bacteria found in the environment called nontuberculous mycobacteria (NTM). People with this condition are unusually vulnerable to infections from the BCG vaccine (a live vaccine against TB given in many countries) and from environmental mycobacteria that would not normally cause serious illness in healthy individuals. They may also have increased susceptibility to certain viral and fungal infections, though this tends to be less severe than in complete STAT1 deficiency. Symptoms typically appear in childhood and include recurring or severe infections, particularly in the lungs, lymph nodes, bones, and skin. Treatment focuses on aggressive and prolonged antibiotic therapy to fight mycobacterial infections, along with interferon-gamma (IFN-γ) therapy to boost the immune response. With appropriate treatment, many patients can manage their infections and lead relatively normal lives, though lifelong vigilance against infections is necessary.
Also known as:
Key symptoms:
Severe or recurring infections caused by mycobacteria (TB-like germs)Serious reaction to the BCG vaccineSwollen or infected lymph nodesPersistent lung infections or pneumoniaBone infections (osteomyelitis)Skin infections or abscessesRecurring feversWeight loss or failure to thrive in childrenFatigue and general weaknessInfections that do not respond well to standard antibioticsOccasional viral infections that are more severe than expectedOccasional fungal infections
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 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 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
No travel grants are currently matched to Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency.
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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.What specific STAT1 mutation does my child (or I) have, and how does it affect immune function?,Should we start interferon-gamma therapy, and what are the benefits and side effects?,What antibiotics will be used, and how long will treatment last?,Which vaccines are safe and which should be avoided?,How often should we have follow-up visits and blood tests to monitor immune function?,What signs of infection should prompt an emergency visit?,Should other family members be tested for this genetic mutation?
Common questions about Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
What is Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency?
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency (sometimes called partial STAT1 deficiency or MSMD due to partial STAT1 deficiency) is a rare inherited immune disorder. In this condition, the STAT1 protein — which plays a key role in how your immune system fights infections — does not work as well as it should, but it still has some function (hence "partial" deficiency). This means the body has a harder time defending itself against certain types of bacteria called mycobacteria. Mycobacteria include the germs that cause tuberculosis (TB) and a group of relate
How is Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency inherited?
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency typically begin?
Typical onset of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency is childhood. Age of onset can vary across affected individuals.