Lupus érythémateux disséminé

Here we describe human systemic lupus erythematosus caused by a TLR7 gain-of-function variant... We identified a de novo, previously undescribed missense TLR7Y264H variant in a child with severe lupus and additional variants in other patients with lupus. The TLR7Y264H variant selectively increased sensing of guanosine and 2',3'-cGMP10,11,12, and was sufficient to cause lupus when introduced into mice... We establish the importance of TLR7 and guanosine-containing self-ligands for human lupus pathogenesis

Here, [To broadly evaluate alterations in CD4+ T cells in SLE, we used mass cytometry to compare blood CD4+ T cells from 19 patients with SLE and 19 non-autoimmune controls, and] we identify an imbalance in CD4+ T cell phenotypes in patients with SLE, with expansion of PD-1+/ICOS+ CXCL13+ T cells and reduction of CD96hi IL-22+ T cells. Using CRISPR screens, we identify the aryl hydrocarbon receptor (AHR) as a potent negative regulator of CXCL13 production .. AHR coordinates with AP-1 family member JUN to pr

This Research Highlight discusses a recent publication, where the authors identified an increase in CXCL13+ peripheral helper T/follicular helper T cells, which was concomitant with a decrease in CD96+ T helper 22 (TH22) cells in patients with systemic lupus erythematosus. The genetic and epigenetic cues that reciprocally regulate this pathogenic imbalance of T-cell subsets were also identified, thus providing targets for therapeutic intervention.

Nous nous limiterons aux anticorps antinucléaires, typiquement associés aux connectivites, et aux anticorps anticytoplasme des neutrophiles (ANCA), utiles à la prise en charge des vasculites à ANCA. Au vu de sa grande sensibilité, l’immunofluorescence indirecte est utilisée comme test de dépistage ; encas de positivité, des autoanticorps plus spécifiquement associés à certaines pathologies auto-immunes sont alors recherchés