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A Novel RELA Truncating Mutation in a Familial Behçet's Disease-like Mucocutaneous Ulcerative Condition.

Fahd AdeebEmma R DorrisNiamh E MorganDylan LawlessAqeel MaqsoodWan Lin NgOrla KilleenEoin P CumminsCormac T TaylorSinisa SavicAnthony G WilsonAlexander Fraser
Published in: Arthritis & rheumatology (Hoboken, N.J.) (2021)
Our data indicate that RELA loss-of-function mutations cause BD-like autoinflammation and NMO via impaired NF-κB signaling and increased apoptosis.
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