What is STAT1 gain of function immunodeficiency?
I'm trying to understand STAT1 gain of function immunodeficiency. Could you explain what it is and how it affects the immune system?
What is STAT1 related immunodeficiency?
STAT1 related immunodeficiency is a rare disease caused by partial defects in the STAT1 gene, which leads to susceptibility to mycobacterial diseases. It is characterized by recurrent viral infections, bronchopneumonia, and other immune system abnormalities. The disease has an autosomal dominant inheritance pattern and often manifests in childhood, with a prevalence of less than 1 in 1,000,000.
What is STAT1 deficiency?
STAT1 deficiency refers to a condition where there is a partial or complete lack of the Signal Transducer and Activator of Transcription 1 protein. This deficiency can lead to increased susceptibility to mycobacterial diseases, due to the important role STAT1 plays in mediating cellular responses to interferons and other immune functions.