FIG. 1.

Clinical features of the proband carrying the Arg822Gln mutation in IFIH1. (A) Well-defined scaly erythematous skin lesion on the left flank at the age of 12 months. (B) Spastic gait and mild right facial palsy at the age of 5 years. (C) Quantitative analysis of interferon stimulated genes (ISGs) in peripheral blood mononuclear cells (PBMCs) of the proband. The expression of IFI27, IFI44L, IFIT1, ISG15, RSAD2, and SIGLEC1 was analyzed by quantitative PCR in 3 technical replicates. The relative expression of each gene in PBMCs from the proband was normalized to controls and represented as a mean ± standard deviation. (D+E) Sagittal and coronal image showing calcification of the globi pallidi bilaterally. PCR, polymerase chain reaction. (Written parental consent obtained to reproduce photo.) Color images available online at www.liebertpub.com/jir