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 FraserPublished 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.