Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a rare inherited condition that affects the immune system. This condition is characterized by an increased vulnerability to certain mycobacterial infections, particularly those related to the Bacille Calmette-GuC)rin (BCG) vaccine. People with this condition have a genetic variant that impairs the normal function of a gene known as ISG15. The deficiency in the ISG15 gene is linked to the body's reduced ability to respond properly to infections. As a consequence, individuals with this condition may experience infections following exposure to BCG and possibly other mycobacteria. The condition falls under the realm of genetic immunodeficiencies, and as such, it is identified by its distinctive genetic cause.

Information about symptoms is currently limited for this condition. The main characteristic noted is an increased susceptibility to infections, especially those associated with the BCG vaccine.

This condition is caused by a complete deficiency in the ISG15 gene. It is an autosomal recessive genetic variant, meaning that a person needs to inherit two copies of the mutated gene to develop the condition. The mutation in ISG15 leads to impaired immune responses, particularly to mycobacterial infections.

Information about treatment options is currently limited for this condition. Details regarding management and therapeutic approaches have not been provided.

Information about prognosis is currently limited for this condition. There is a lack of details on the long-term outcomes and quality of life for people with this diagnosis in the provided sources.

Information about research on this condition is currently limited. Ongoing studies and future directions have not been described in the provided sources.