Article
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
The Journal of clinical investigation - 15 Mar 2022
Lee Younglang, Wessel Alex W, Xu Jiazhi, Reinke Julia G, Lee Eries, Kim Somin M, Hsu Amy P, Zilberman-Rudenko Jevgenia, Cao Sha, Enos Clinton, Brooks Stephen R, Deng Zuoming, Lin Bin, de Jesus Adriana A, Hupalo Daniel N, Piotto Daniela Gp, Terreri Maria T, Dimitriades Victoria R, Dalgard Clifton L, Holland Steven M, Goldbach-Mansky Raphaela, Siegel Richard M, Hanson Eric P
Abstract excerpt
Host defense and inflammation are regulated by the NF-κB essential modulator (NEMO), a scaffolding protein with a broad immune cell and tissue expression profile. Hypomorphic mutations in inhibitor of NF-κB kinase regulatory subunit gamma (IKBKG) encoding NEMO typically present with immunodeficiency. Here, we characterized a pediatric autoinflammatory syndrome in 3 unrelated male patients with distinct X-linked...
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