Overview
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency is a rare inherited immune disorder that makes a person unusually 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 normally harmless to most people. In this condition, the body's immune defense is weakened because the receptor for interferon-gamma (a key immune signaling molecule) does not work properly. Because the deficiency is only partial, the receptor still has some function, which generally leads to a less severe form of the disease compared to complete deficiency. People with this condition typically develop recurrent or severe infections with mycobacteria, often starting in childhood. These infections can affect the lymph nodes, lungs, bones, skin, and sometimes spread throughout the body (disseminated infection). Patients may also be more susceptible to certain other infections, including Salmonella bacteria and some fungi. Symptoms often include persistent fevers, swollen lymph nodes, chronic cough, weight loss, and poor growth in children. Treatment usually involves long-term antibiotic therapy targeted at the specific mycobacterial infection. In some cases, supplemental interferon-gamma therapy (Actimmune, or interferon gamma-1b) may be used to boost the immune response. Early diagnosis and ongoing management by immunology specialists are important for improving outcomes. While the partial deficiency generally carries a better prognosis than complete deficiency, lifelong vigilance against infections is necessary.
Also known as:
Key symptoms:
Recurrent or severe infections with mycobacteria (including tuberculosis-like germs)Swollen lymph nodes that may drain or form abscessesPersistent or recurring feversChronic coughWeight loss or failure to thrive in childrenPoor growthBone infections (osteomyelitis)Skin lesions or sores that do not heal easilyLung infections that keep coming backInfections that spread throughout the body (disseminated infections)Salmonella infectionsFatigue and general weaknessNight sweats
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency.
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 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency.
Community
No community posts yet. Be the first to share your experience with Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency.
Start the conversation →Latest news about Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
No recent news articles for Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency.
Follow this condition to be notified when news becomes available.
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.How severe is my child's (or my) IFNgammaR1 deficiency, and what does that mean for infection risk?,What infections should we watch for, and what are the early warning signs?,Will my child need lifelong antibiotic treatment?,Is interferon-gamma therapy recommended in our case, and what are the side effects?,Are there any vaccines that should be avoided?,Should other family members be tested for this genetic condition?,What precautions should we take at home, school, or work to reduce infection risk?
Common questions about Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
What is Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency?
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency is a rare inherited immune disorder that makes a person unusually 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 normally harmless to most people. In this condition, the body's immune defense is weakened because the receptor for interferon-gamma (a key immune signaling molecule) does not work properly. Because the deficiency is on
How is Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency inherited?
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency typically begin?
Typical onset of Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency is childhood. Age of onset can vary across affected individuals.