Centre de Référence des Maladies Autoinflammatoires et des Amyloses

Serum GFAP and Age Accurately Distinguish AQP4 ‐ IgG Positive and Double Seronegative NMOSD From MOGAD After a Recent Attack

BACKGROUND: Serum neurofilament-light chain (sNfL) and glial fibrillary acidic protein (sGFAP) are associated with multiple sclerosis (MS) activity. This study aimed to identify patient- and disease-level determinants of sNfL and sGFAP and to evaluate their ability to support dif...

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 (Thr 43 →Ile) CDC42 variant in patients with autoinflammation and uncovered a...