Aug 2026
An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.
Heterozygous carboxyl-terminal variants in the RHO guanosine triphosphatase (GTPase) CDC42 are known to cause severe autoinflammatory syndromes. Here, we identified a heterozygous amino-terminal p.T43I (Thr43→Ile) CDC42 variant in patients with autoinflammation and uncovered a molecular link between CDC42 and the infla...
Mariko Aoki, A. Iannuzzo, P. Mertz et al.
· Science immunology · 4 citations