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.
5 answers
CryptoElite
Thu Nov 07 2024
Due to this disruption, individuals with
AR STAT1 deficiency are particularly susceptible to both viral and mycobacterial infections.
Maria
Thu Nov 07 2024
Our study delves into the genetic aspects of this disorder, identifying the mutations that underlie it.
amelia_martinez_engineer
Thu Nov 07 2024
Autosomal recessive (AR) STAT1 deficiency represents a profound congenital immune disorder.
Lorenzo
Thu Nov 07 2024
Additionally, we explore the immunological features, highlighting how the defective cellular responses contribute to the heightened infection risk.
HanRiverVision
Thu Nov 07 2024
This condition disrupts the cellular responses to various cytokines, including type I, II, and III interferons (IFNs) as well as interleukin-27 (IL-27).