Figure 2. Autosomal recessive, homozygous IFIH1 mutation in the proband. (A) Pedigree indicating genotypes. (B) Confirmatory Sanger sequencing. Schematic below showing mutation location relative to MDA5 protein domains. (C) Ribbon diagram of the MDA5 structure with close-up showing lysine 365 interaction with ribose in RNA, and effects of glutamic acid substitution on distances (Å) between charged groups (yellow sphere, positive; red spheres, negative). (D) Immunoblot of MDA5, RIG-I, and MAVS proteins, relative to β-actin, in cycling T cells, either untreated or treated for 20 h with IFN-α. NC, healthy normal control. Pt, patient. (E) Immunoblot of overexpressed MDA5 (WT or K365E) after affinity precipitation with biotinylated-poly(I:C). D and E are representative of four repeats.
Figure 2.

Autosomal recessive, homozygous IFIH1 mutation in the proband. (A) Pedigree indicating genotypes. (B) Confirmatory Sanger sequencing. Schematic below showing mutation location relative to MDA5 protein domains. (C) Ribbon diagram of the MDA5 structure with close-up showing lysine 365 interaction with ribose in RNA, and effects of glutamic acid substitution on distances (Å) between charged groups (yellow sphere, positive; red spheres, negative). (D) Immunoblot of MDA5, RIG-I, and MAVS proteins, relative to β-actin, in cycling T cells, either untreated or treated for 20 h with IFN-α. NC, healthy normal control. Pt, patient. (E) Immunoblot of overexpressed MDA5 (WT or K365E) after affinity precipitation with biotinylated-poly(I:C). D and E are representative of four repeats.

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