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.
5 answers
WhisperWind
Sun Nov 03 2024
Autosomal recessive (AR) complete signal transducer and activator of transcription 1 (STAT1) deficiency is a rare condition.
Chiara
Sun Nov 03 2024
This primary immunodeficiency is caused by mutations in the STAT1 gene.
MysterylitRapture
Sun Nov 03 2024
Due to this deficiency, patients are susceptible to life-threatening mycobacterial and viral infections.
GeishaCharming
Sun Nov 03 2024
The disorder is so uncommon that only a limited number of cases have been reported.
SsangyongSpiritedStrength
Sat Nov 02 2024
Specifically, seven patients from five unrelated families have been documented with this condition.