A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis

Sophie Wolfgramm(Universitätsmedizin Greifswald), Elke Krüger(Charité - Universitätsmedizin Berlin), Gijs W.E. Santen(Leiden University Medical Center), Bénédicte Neven(Université Paris-Panthéon-Assas), Jason M. Brenchley(Office of Extramural Research), Olaf Neth(Instituto de Biomedicina de Sevilla), Paul Bastard(Inserm), Peter Mustillo(Nationwide Children's Hospital), David E. Kleiner(National Institutes of Health), Franziska G. Thiel(Universitätsmedizin Greifswald), Sara Alehashemi(National Institute of Allergy and Infectious Diseases), Hannes Wolfgramm(Universitätsmedizin Greifswald), Leif Steil(Philipps University of Marburg), Martin Wendlandt(Universitätsmedizin Greifswald), Pilar Blanco-Lobo(Instituto de Biomedicina de Sevilla), Christian Hentschker(Universitätsmedizin Greifswald), Robbert G. M. Bredius(Leiden University Medical Center), Simone Venz(Universitätsmedizin Greifswald), Kátia Tomie Kozu(Hospital Universitário da Universidade de São Paulo), Anne Pagnier(Centre Hospitalier Universitaire de Grenoble), Roshini S. Abraham(Nationwide Children's Hospital), AnnaCarin Horne(Karolinska University Hospital), Katherine R. Calvo(National Institutes of Health Clinical Center), Shoghik Akoghlanian(Nationwide Children's Hospital), T. Huizinga(Leiden University Medical Center), Ruba Al‐Abdulla(Universitätsmedizin Greifswald), G. Boursier(Inserm), Mayra Dorna(Hospital Universitário da Universidade de São Paulo), Farzana Bhuyan(National Institutes of Health), Kat Uss(National Institute of Allergy and Infectious Diseases), Jonas Johannes Papendorf(Universitätsmedizin Greifswald), Petter Brodin(Karolinska University Hospital), Karin Palmblad(Karolinska University Hospital), Y K Onno Teng(Leiden University Medical Center), Anvitha Metpally(National Institute of Allergy and Infectious Diseases), José Bernabéu‐Wittel(Instituto de Biomedicina de Sevilla), Fabiola Castello Casta(National Institute of Allergy and Infectious Diseases), Thais Costa Lima de Moura(Hospital Universitário da Universidade de São Paulo), Maud Tusseau(Lyon 1 Université), Uwe Völker(Universitätsmedizin Greifswald), Frédéric Ebstein(Centre National de la Recherche Scientifique), Jesper Kers(Leiden University Medical Center), Laura Fernandez-Silveira(Instituto de Biomedicina de Sevilla), Emely Borngräber(Universitätsmedizin Greifswald), Léa Poirier(Centre National de la Recherche Scientifique), Iren Horkayne‐Szakaly(Walter Reed National Military Medical Center)
Annals of the Rheumatic Diseases
November 20, 2025
Cited by 6


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