A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

Bahia Bekhouche,Sandrine Etienne-Manneville,Thierry Jo Molina,Aurore Tourville,Andrea Khau-Dancasius,Jérôme Delon,Meriem Khirat,Pénélope Jordan,Florent Dingli,Olivier Hermine,Christine Bodemer,Damarys Loew,Anne Puel,Rachida Tacine,Stéphane Blanche,Marianne Mangeney,Laurence Abrami,Batiste Boëda,Asma Smahi,F Gisou Van Der Goot,Yamini Ravichandran,Jacqueline Cherfils,Jean‐Laurent Casanova ,Michaël Dussiot ,S Hadj‐Rabia ,O Boccara ,N Bellon ,Sylvie Fraïtag

doi:10.1016/j.jaci.2020.03.020

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

Bahia Bekhouche, Sandrine Etienne-Manneville + Show 26 more

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https://doi.org/10.1016/j.jaci.2020.03.020

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#NF-κB Hyperactivation #Hematological Abnormalities + Show 8 more

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Abstract

CDC42 gene mutations arise in large clinical spectra. The de novo R186C variant results in Cdc42 palmitoylation, retention in the Golgi apparatus, and NF-κB hyperactivation, leading to a severe psoriasiform dermatitis, hematological abnormalities and autoinflammation.

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