Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency (also called AD partial IFN-gamma receptor 1 deficiency or AD partial IFNGR1 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 large family of environmental organisms called nontuberculous mycobacteria (NTM), which are normally harmless to most people. In this condition, the body's immune defense protein called interferon-gamma receptor 1 (IFNγR1) works only partially. Interferon-gamma is a critical signaling molecule that helps immune cells, especially macrophages, fight off mycobacterial infections. Because the receptor still has some function (unlike the complete deficiency form), the disease tends to be less severe, and patients usually respond to treatment. People with this condition typically develop recurrent or unusually severe infections with nontuberculous mycobacteria, BCG (the tuberculosis vaccine strain), or sometimes Salmonella and other intracellular organisms. Symptoms often include persistent fevers, swollen lymph nodes, bone infections, lung infections, and skin lesions. The infections may start in childhood but can also first appear in adulthood. Treatment usually involves long-term antibiotic therapy targeting the specific mycobacterial species, and in some cases, supplemental interferon-gamma therapy (Actimmune) can help boost the immune response. With appropriate treatment, many patients with the partial form have a favorable prognosis compared to those with complete receptor deficiency.

Bring these to your next appointment

• Q1.How severe is my (or my child's) specific genetic mutation, and what does it mean for long-term health?,What infections should I watch out for, and what are the warning signs?,How long will antibiotic treatment need to continue, and what side effects should I expect?,Would interferon-gamma therapy (Actimmune) be helpful in my case?,Should other family members be tested for this genetic mutation?,Are there any vaccines I should avoid or any that are especially important to receive?,What precautions should I take in daily life to reduce my risk of mycobacterial infections?

Common questions about Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency