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Author

S. Georgin-lavialle

2 papers indexed here

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Open access Sep 2026

AA amyloidosis in the four historical monogenic autoinflammatory diseases: Clinical burden and insights from a retrospective referral-centre study.

BACKGROUND AA amyloidosis (AAA) remains a life-threatening yet largely preventable complication of monogenic autoinflammatory diseases (AIDs). METHODS We retrospectively described patients with AAA secondary to one of the four historical monogenic AIDs (familial Mediterranean fever [FMF], cryopyrin-associated periodi...

Majdouline El Moussaoui, L. Savey, Hassina Sofia Aloui-Belhocine et al. · 0 citations
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. · 4 citations

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