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Fig. 1 | Arthritis Research & Therapy

Fig. 1

From: Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

Fig. 1

TNFAIP3 variants in two HA20 families. a Pedigree of family 1 and electropherograms of two patients with a TNFAIP3 variant and a control subject. b Pedigree of family 2 and quantitative PCR of family members with a TNFAIP3 deletion. Affected individuals and probably affected individuals are depicted using black and gray symbols, respectively. Black and red arrows indicate the probands and variants, respectively. The TNFAIP3 alleles identified in each individual are labeled as M1 and M2 for variants and WT for wild-type. M1: c.1434C>A:p.(Cys478*), M2: chr6:138192201-138428412 (GRCh37/hg19) deletion

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