Fig. 1: Genetic identification of ARF1 R99C and clinical phenotype.
From: ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling
a–g Erythematous vasculitic chilblain-like lesions on the hands (a) and face (b) of AGS460 aged 9 years. Right hand of the same patient at age 18 years showing frank tissue loss (c). Similar lesions were observed on the hands and feet of patients RH2003 (d, e) and KW2022 (f, g), at the ages of 18 and 2 years respectively. h Schematic overview of the domain structure of ARF1. Residue R99 is indicated by a red arrow. SW, Switch domain. i Multiple sequence alignment showing the conservation of residue R99 of ARF1 in indicated species. j ISG profile of patient AGS3133 (red) compared to the average of 27 healthy donors (blue). n = 27 (blue bars, healthy donors) ± SD; n = 1 (red bars, patient). See also Supplementary Fig. 1.
