Overview
Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial interferon-gamma receptor 2 (IFNγR2) deficiency is a very rare inherited immune disorder. In this condition, the body's immune system has trouble fighting off certain types of infections, particularly those caused by mycobacteria. Mycobacteria include the germs that cause tuberculosis (TB) and a group of related bacteria found in the environment called nontuberculous mycobacteria (NTM). Normally, a protein called interferon-gamma (IFN-gamma) plays a key role in helping immune cells kill these bacteria. In this disease, the receptor that detects IFN-gamma on the surface of immune cells (specifically the IFNγR2 part) does not work properly, though it still has some function — this is why it is called a "partial" deficiency. Because the receptor still works to some degree, this form of the disease is generally less severe than the complete deficiency form. Patients typically develop recurrent or severe infections with mycobacteria, often starting in childhood. These infections can affect the lungs, lymph nodes, bones, skin, and sometimes spread throughout the body. BCG vaccination, which is a live weakened form of mycobacteria given in many countries to prevent tuberculosis, can cause serious illness in affected children. Treatment usually involves long-term antibiotics targeting mycobacteria, and in some cases, supplemental interferon-gamma therapy can help boost the immune response. Early diagnosis and ongoing management by immunology specialists are essential for improving outcomes.
Also known as:
Key symptoms:
Recurring or severe infections caused by mycobacteriaSerious reaction to BCG vaccinationSwollen lymph nodes that do not go awayPersistent feversChronic cough or lung infectionsBone infections (osteomyelitis)Skin infections or abscessesWeight loss or failure to thrive in childrenFatigue and general weaknessInfections that spread to multiple parts of the body (disseminated infection)Night sweatsPoor growth in childhood
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 IFNgammaR2 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
NORD Caregiver Resources
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Mental Health Support
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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 IFN-gamma receptor deficiency, and what does that mean for their long-term health?,What antibiotics will be needed, how long will treatment last, and what side effects should I watch for?,Should my child receive interferon-gamma therapy in addition to antibiotics?,Are there any vaccines my child should avoid, and which ones are safe?,What environmental precautions should we take to reduce the risk of mycobacterial exposure?,Should other family members be tested for this genetic condition?,What are the signs that an infection is getting worse and when should we go to the emergency room?
Common questions about Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
What is Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency?
Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial interferon-gamma receptor 2 (IFNγR2) deficiency is a very rare inherited immune disorder. In this condition, the body's immune system has trouble fighting off certain types of infections, particularly those caused by mycobacteria. Mycobacteria include the germs that cause tuberculosis (TB) and a group of related bacteria found in the environment called nontuberculous mycobacteria (NTM). Normally, a protein called interferon-gamma (IFN-gamma) plays a key role in helping immune cells kill these bacteria. In thi
How is Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency inherited?
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 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 IFNgammaR2 deficiency typically begin?
Typical onset of Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency is childhood. Age of onset can vary across affected individuals.