Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine

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...

Non-invasive multiparametric characterization of essential thrombocythemia, premyelofibrosis, and overt myelofibrosis

Among myeloproliferative neoplasms (MPN), prefibrotic myelofibrosis (preMF) was defined as a distinct entity from essential thrombocythemia (ET) and primary overt myelofibrosis (PMF) since the 2016 revision of the World Health Organization (WHO) classification, while precise char...