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Table 1.
Comparison of phenotypes observed in proband and CRISPR/Cas9 Ikbkb mutant mouse
Human IKBKBV203IMouse IkbkbV203I
CD4+ T cells Reduced Reduced 
CD8+ T cells Reduced Reduced 
B cells Reduced Reduced 
Memory B cells Reduced Reduced 
T reg cells Increased or normal Increased 
T cell activation Increased (naive) Increased 
Phospho-IκBα Constitutive activation Constitutive activation 
Human IKBKBV203IMouse IkbkbV203I
CD4+ T cells Reduced Reduced 
CD8+ T cells Reduced Reduced 
B cells Reduced Reduced 
Memory B cells Reduced Reduced 
T reg cells Increased or normal Increased 
T cell activation Increased (naive) Increased 
Phospho-IκBα Constitutive activation Constitutive activation 
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