Table 1.
Comparison of phenotypes observed in proband and CRISPR/Cas9
Ikbkb
mutant mouse
.
Human
IKBKB
V203I
.
Mouse
Ikbkb
V203I
.
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
IKBKB
V203I
.
Mouse
Ikbkb
V203I
.
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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