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Fig. 1 | Arthritis Research & Therapy

Fig. 1

From: Juvenile onset autoinflammatory disease due to a novel mutation in TNFAIP3 (A20)

Fig. 1

a Family tree and A20/TNFAIP3 mutations. Sequence analysis of the A20/TNFAIP3 gene among the proband and family members showed a heterozygous mutation of C200A in exon 4, which was absent in the healthy father. The c597-598 T deletion variant resulted in a frameshift and premature stop codon (C200A fs*16) in the OTU domain of A20. Sequence analysis was not possible on the younger brothers of the proband without symptoms. Sequence analysis results are shown using reverse primer. b C200A fs*16 mutation reduced A20 in peripheral blood mononuclear cells (PBMCs). PBMCs isolated from the proband (patient) and a healthy control were stimulated with tumour necrosis factor alpha (TNF-α; 10 ng/ml) for 24 h and whole cell lysates were immunoblotted for representative target proteins. Reduced A20 protein expressions in proband PBMCs were confirmed at baseline and after TNF-α-stimulation (24 h). Cytosolic expression levels of inhibitor of nuclear factor kappa B alpha (IκB-α) were reduced by TNF-α stimulation in the patient’s PBMCs compared with those in control PBMCs

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