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Fig. 2 | Pediatric Rheumatology

Fig. 2

From: Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

Fig. 2

Molecular findings. a Pedigree of patient’s family with ACP5 gene mutations indicated. b Pherograms showing ACP5 gene mutations as sequenced in the patient. c Expression of IFNB and the interferon-stimulated genes IFI6, IFI44, DDX58 and IFI27 in peripheral blood cells normalized to GAPDH. Indicated are the fold changes in gene expression relative to the mean gene expression of 2 wild type controls. Gene expression was determined by quantitative RT-PCR. Shown are the means ± SEM of triplicate measurements. *p < 0.05; **p < 0.01; ***p < 0.001, 2-tailed Student’s t test

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