I'm trying to understand STAT1 gain of function immunodeficiency. Could you explain what it is and how it affects the immune system?
            
            
            
            
            
            
           
          
          
            6 answers
            
            
  
    
    GangnamGlamour
    Fri Nov 08 2024
   
  
    Mutations in STAT1-GOF result in alterations in the phosphorylation status of STAT1.
  
  
 
            
            
  
    
    SamuraiCourage
    Fri Nov 08 2024
   
  
    These mutations lead to an increase in the phosphorylation of STAT1, also known as pSTAT1. 
  
  
 
            
            
  
    
    SakuraSpiritual
    Thu Nov 07 2024
   
  
    Additionally, there is a delay in the dephosphorylation process, causing pSTAT1 to remain activated for longer periods.
  
  
 
            
            
  
    
    Eleonora
    Thu Nov 07 2024
   
  
    Furthermore, nuclear dephosphorylation of STAT1 is also impaired due to these mutations.
  
  
 
            
            
  
    
    SeoulStyle
    Thu Nov 07 2024
   
  
    Consequently, the normal development of T helper (Th) 17 cells is hindered, affecting their ability to function properly.