Article
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.
Nature communications - 16 Nov 2024
Iannuzzo Alberto, Delafontaine Selket, El Masri Rana, Tacine Rachida, Prencipe Giusi, Nishitani-Isa Masahiko, van Wijck Rogier T A, Bhuyan Farzana, de Jesus Rasheed Adriana A, Coppola Simona, van Daele Paul L A, Insalaco Antonella, Goldbach-Mansky Raphaela, Yasumi Takahiro, Tartaglia Marco, Meyts Isabelle, Delon Jérôme
Abstract excerpt
Most autoinflammatory diseases are caused by mutations in innate immunity genes. Previously, four variants in the RHO GTPase CDC42 were discovered in patients affected by syndromes generally characterized by neonatal-onset of cytopenia and auto-inflammation, including hemophagocytic lymphohistiocytosis and rash in the most severe form (NOCARH syndrome). However, the mechanisms responsible for these phenotypes...
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