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Fig. 3 | Pediatric Rheumatology

Fig. 3

From: Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome

Fig. 3

Genotype of the mutant NOD2 gene and functional assays. A The electropherogram shows the sequence of heterozygous c.1449 C > G transition on exon 4 in the NOD/NACHT domain of NOD2 in the patient and her father (orange arrows). Such mutation was not found in her mother (blue arrow); B Family pedigree of the proband; C and D Representative flowcytometry results and bar graphs depicting the percentage of enhanced p-NFκB staining within CD11b+ cells among the proband, her parents, healthy controls (n = 3) and a BS patient (R334W). NFκB autoactivation was observed in the CD11b+ cells of the symptomatic proband harboring NOD2 C483W mutant and the BS patients with R334W mutation. E Level of cytokines in subjects’ plasma sample

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