Interferon gamma, receptor 1, deficiency

Interferon gamma receptor 1 deficiency is a rare genetic disorder that affects the immune system. This condition is characterized by a mutation in the gene responsible for the production of the Interferon gamma receptor 1 (IFNGR1), which plays a crucial role in the body's defense mechanism against infections. Patients with this deficiency are particularly susceptible to bacterial infections, especially those caused by Mycobacterium, including both tuberculosis and non-tuberculosis mycobacteria. The condition is part of a broader category of diseases known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD).

Symptoms and Diagnosis

The primary symptom of Interferon gamma receptor 1 deficiency is an increased susceptibility to mycobacterial infections. These infections can be more severe and recur more frequently than in individuals with a normal immune system. Diagnosis of this condition typically involves genetic testing to identify mutations in the IFNGR1 gene, along with immunological tests to assess the functionality of the interferon gamma receptor pathway.

Genetics

Interferon gamma receptor 1 deficiency is caused by mutations in the IFNGR1 gene, which is located on chromosome 6. The IFNGR1 gene encodes a protein that is part of the receptor for interferon gamma, a cytokine critical for the immune response to infections. Mutations in this gene can lead to a partial or complete lack of functional interferon gamma receptor 1 on the cell surface, impairing the immune response.

Treatment

There is no cure for Interferon gamma receptor 1 deficiency, and treatment focuses on managing infections through the use of antibiotics and, in some cases, interferon gamma therapy. Bone marrow transplantation has been explored as a potential curative treatment for this condition, with varying degrees of success.

Epidemiology

Interferon gamma receptor 1 deficiency is extremely rare, with only a small number of cases reported in the medical literature. It affects individuals of both sexes and all ethnic backgrounds.

See Also

• Interferon gamma
• Mendelian Susceptibility to Mycobacterial Diseases
• Genetic disorder
• Immunodeficiency

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