Délégation Paris 5

Constitutive natural killer cell features associated with post-treatment control of SIV infection in the pVISCONTI study

Abstract Post-treatment HIV controllers (PTC) offer a unique opportunity to uncover the determinants of durable remission after antiretroviral therapy (ART) interruption. Here, using six PTC and six post-treatment non-controllers from the pVISCONTI study in cynomolgus macaques, w...

Multicenter retrospective study on perceived effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11DS) markedly increases risk of psychiatric disorders, including anxiety and mood disorders, and is associated with a spectrum of cognitive impairment, from borderline functioning to intellectual disability, with cognitive decline frequently reporte...

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...

Reimbursement status, access delays and prices of orphan drugs in France: a population-stratified analysis of indications approved between 2021 and 2024

Abstract Background More and more treatments are available for patients with rare diseases. However, a marketing authorization (MA) for a new treatment does not mean access in France for all patients. Moreover, while rare diseases affect children mostly, paradoxically it seems th...

Genetic screening identifies WNT5A/RYK as a determinant of extracellular vesicle fate

Extracellular vesicles (EVs) are natural mediators of intercellular communication through the transfer of cytoplasmic material from donor to recipient cells. The molecular mechanisms governing EV uptake and cargo delivery in recipient cells remain largely elusive. To address this...