Complementation of the IFN-γ response with WT IFNGR2. (A) SV40 fibroblasts from P1 and P3 were transiently transfected with a mock vector and WT IFNGR2 and stimulated with 104 IU/mL IFN-γ. DNA-binding activity was then analyzed by EMSA with a GAS probe. Untransfected SV40 fibroblasts from a healthy control (WT/WT), a patient with recessive complete IFN-γR2 deficiency (RC-R2, 278delAG/278delAG), and patients P1 and P3 studied here with the S124F (RP-R2, S124F/S124F) and G141R (RP-R2, G141R/G141R) mutations were used as controls. Vertical lines have been inserted to indicate a repositioned gel lane. (B) SV40 fibroblasts from a healthy control (WT/WT) and (C) an IFN-γR2–deficient patient (278delAG/278delAG) were transiently transfected with mock vector, WT, R114C, S124F, G141R, G227R, 382-387dup, T168N, and 278delAG IFNGR2-tagged V5 constructs. Transfected cells were either left unstimulated or were stimulated with 104 IU/mL of IFN-γ for 20 minutes. GAS-binding activity was evaluated by EMSA. The results shown are representative of 2 independent experiments. Vertical lines have been inserted to indicate a repositioned gel lane.
