Overview
IFNG-responsive severe Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inherited condition that affects the immune system's ability to fight off certain types of bacteria, particularly mycobacteria. Mycobacteria include the germs that cause tuberculosis (TB) and a group of related bacteria found in the environment called nontuberculous mycobacteria (NTM). In healthy people, the immune system can usually control these infections, but people with this condition have a specific weakness in the interferon-gamma (IFN-γ) signaling pathway — a critical part of the body's defense system. This means their immune cells cannot properly activate to kill mycobacteria. The term 'OBSOLETE' in the disease name indicates that this specific classification has been retired or merged into a broader or updated category within medical databases. The condition is now generally classified under the broader umbrella of Mendelian susceptibility to mycobacterial diseases (MSMD). The word 'IFNG-responsive' means that patients with this particular form can still respond to treatment with interferon-gamma, which is an important distinction because it affects how well treatment works. Patients typically develop severe, recurrent, or unusual infections caused by weakly virulent mycobacteria, including BCG (the tuberculosis vaccine strain) and environmental mycobacteria. Infections can affect the lymph nodes, bones, lungs, skin, and sometimes spread throughout the body. Treatment usually involves long-term antibiotics combined with interferon-gamma therapy, and outcomes can be favorable when the condition is recognized early and managed appropriately.
Also known as:
Key symptoms:
Severe or widespread infection after BCG vaccinationRecurrent or persistent infections with environmental mycobacteriaSwollen lymph nodes that do not improve with standard treatmentBone infections (osteomyelitis)Lung infections that keep coming backSkin lesions or abscessesFever that does not go awayWeight loss or failure to thrive in childrenInfections spreading to multiple organs (disseminated disease)Salmonella infections that are unusually severeFatigue and general weaknessInfections with other intracellular organisms such as fungi or certain viruses
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 eventChenix: FDA approved
For patients with radiolucent stones in well opacifying gallbladders, in whom elective surgery would be undertaken except for the presence of increased surgical risk due to systemic disease or age
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableClinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases.
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 OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 gene mutation is causing this condition in my family, and what does it mean for treatment?,Is interferon-gamma therapy appropriate for my case, and how do we access it?,What infections should I watch out for, and what are the warning signs?,Should my other family members be tested for this condition?,Is bone marrow transplantation an option, and what are the risks and benefits?,Are there any vaccines I should avoid or any that are especially important to receive?,What is the long-term outlook, and how often will I need follow-up appointments?
Common questions about OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases
What is OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases?
IFNG-responsive severe Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inherited condition that affects the immune system's ability to fight off certain types of bacteria, particularly mycobacteria. Mycobacteria include the germs that cause tuberculosis (TB) and a group of related bacteria found in the environment called nontuberculous mycobacteria (NTM). In healthy people, the immune system can usually control these infections, but people with this condition have a specific weakness in the interferon-gamma (IFN-γ) signaling pathway — a critical part of the body's defense s
At what age does OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases typically begin?
Typical onset of OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases is childhood. Age of onset can vary across affected individuals.
What treatment and support options exist for OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases?
1 patient support program are currently tracked on UniteRare for OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases. See the treatments and support programs sections for copay assistance, eligibility, and contact details.