Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency is a rare genetic disorder that affects the immune system's ability to fight off mycobacterial infections, such as tuberculosis and certain types of fungal infections. It is caused by mutations in the STAT1 gene, which plays a crucial role in the signaling pathway that activates immune responses.
Individuals with this condition have a partial deficiency in STAT1, leading to impaired immune function. As a result, they are more susceptible to severe and recurrent mycobacterial infections. Symptoms may include chronic lung infections, lymph node swelling, skin abscesses, and other manifestations of mycobacterial diseases.
Diagnosis of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency is typically confirmed through genetic testing. Treatment involves a multidisciplinary approach, including antimicrobial therapy, immunomodulatory agents, and preventive measures such as vaccination.
Early detection and management are crucial in improving outcomes for individuals with this condition. Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and potential risks.