C-terminal CDC42 variants in autoinflammatory patients specifically trigger actin defects and NF-kB hyperactivation.

A recent preprint abstract discusses the findings of a study on CDC42 variants in autoinflammatory patients. The study aimed to investigate whether four CDC42 variants, specifically those located in the C-terminal region, share common signaling alterations. The results showed that the C-terminal variants exhibited aberrant subcellular localizations and functional alterations, including a reduction in actin filament polymerization and increased NF-kB nuclear translocation and phosphorylation. However, there was no causal relationship found between these two events. The study suggests that CDC42 patients should not necessarily be classified among actinopathies and highlights the potential for more personalized therapeutic interventions based on the functional defects observed. [Extracted from the article]