A dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein
2015
TNFAIP3 encodes the anti-inflammatory A20 protein that functions as a potent negative regulator of NFκB signaling and the NLRP3 inflammasome. Low penetrance common variants of TNFAIP3 have been associated with a number of autoimmune diseases. Here we report 5 high penetrance dominantly-inherited frameshift and nonsense TNFAIP3 mutations in 11 patients with early-onset systemic inflammation, arthralgia/arthritis, oral and genital ulcers, and ocular inflammation.
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