Article

Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation

2024-02-02

Abstract excerpt

Most autoinflammatory diseases are caused by mutations in innate immunity genes. Recently, 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 remain...

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Literature Corpus work: 6db0cebc-6ad5-562f-ae99-89791c0dd0b3
DOI: 10.1101/2024.01.31.578189

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