Article
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.
Annals of the rheumatic diseases - 1 Apr 2026
Wolfgramm Sophie, Alehashemi Sara, Wendlandt Martin, Thiel Franziska G, de Jesus Adriana A, Papendorf Jonas J, Wolfgramm Hannes, Alvarez Flavia Llorente, Borngräber Emely, Uss Kat, Bhuyan Farzana, Metpally Anvitha, Steil Leif, Hentschker Christian, Venz Simone, Abdulla Ruba Al, Poirier Léa, Friend Christopher, Casta Fabiola Castello, Horkayne-Szakaly Iren, Akoghlanian Shoghik, Mustillo Peter J, Abraham Roshini S, Bastard Paul, Moura Thais C L, Dorna Mayra B, Kozu Katia T, Kers Jesper, Teng Y K Onno, Bredius Robbert G M, Palmblad Karin, Horne AnnaCarin, Brodin Petter, Blanco-Lobo Pilar, Bernabeu-Wittel José, Fernandez-Silveira Laura, Neth Olaf, Pagnier Anne, Boursier Guilaine, Tusseau Maud, Huizinga Thomas W J, Fournier Benjamin, Neven Bénédicte, Völker Uwe, Santen Gijs W E, Brenchley Jason M, Calvo Katherine R, Kleiner David, Ebstein Frédéric, Krüger Elke, Goldbach-Mansky Raphaela
Abstract excerpt
OBJECTIVES: Proteasome-associated autoinflammatory syndromes (PRAAS) include a group of autoinflammatory interferonopathies caused by 20S proteasome dysfunction. We characterised pathomechanisms and treatment responses of patients with a de novo, dominant-negative (DN)-proteasome subunit beta type-8 (PSMB8) variant. METHODS: Patients with the DN-PSMB8 p.G209R variant encoding a mutant β5i subunit of the 20S...
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