Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 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 system does not respond properly to a key signaling molecule called interferon-gamma (IFN-gamma). Specifically, part of the receptor that detects IFN-gamma — called the IFN-gamma receptor 2 (IFNgammaR2) — does not work correctly, but it still has some remaining function (partial deficiency). Because the receptor is only partially impaired, the immune system can still mount some defense, which generally leads to a milder disease course compared to complete deficiency. Patients typically develop recurrent or severe infections with mycobacteria, including BCG disease after vaccination, disseminated nontuberculous mycobacterial infections, and sometimes tuberculosis. Other organisms such as Salmonella, certain fungi, and intracellular parasites may also cause unusual infections. Symptoms often include prolonged fevers, swollen lymph nodes, bone infections, lung infections, and skin lesions. The condition is usually diagnosed in childhood, though the age of onset can vary. Treatment focuses on aggressive and prolonged antibiotic therapy targeting the specific mycobacterial infection, and in some cases, supplemental interferon-gamma therapy may be used to boost the immune response. With appropriate management, many patients with partial deficiency have a better outlook than those with complete deficiency.

Bring these to your next appointment

• Q1.How severe is my (or my child's) IFNgammaR2 deficiency, and how much receptor function remains?,What infections should I watch for, and what are the early warning signs?,How long will antibiotic treatment need to continue?,Is interferon-gamma therapy recommended in our case, and is it available?,Should family members be genetically tested for this condition?,Are there any vaccines that should be avoided?,What precautions should we take in daily life to reduce infection risk?

Common questions about Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency