Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications.

Background: Chronic urticarial lesions, a common condition of mostly unknown cause, can occur in immune dysregulation disorders such as hypocomplementemic urticarial vasculitis syndrome (HUVS), neutrophilic urticarial dermatosis (NUD), and systemic autoinflammatory diseases (SAIDs), including Schnitzler syndrome.

Objective: This study aimed to identify the molecular basis of non-pruritic chronic urticarial eruptions in four unrelated sporadic patients initially diagnosed with neonatal NUD, Schnitzler syndrome, HUVS or giant cell arteritis.

Methods: Conventional next-generation sequencing (NGS) of leukocyte DNA was supplemented with high-depth NGS (>1500X) to improve detection of low-level mosaicism in SAID-related genes.

Glucocorticoids versus glucocorticoids plus cyclophosphamide in eosinophilic granulomatosis with polyangiitis without poor-prognosis factors: a target trial emulation study.

Objectives: Current recommendations suggest treating eosinophilic granulomatosis with polyangiitis (EGPA) without severe manifestations with glucocorticoids (GCs) and EGPA with severe manifestations with GCs plus cyclophosphamide (CYC) regardless of poor-prognostic factors. However, GCs plus CYC and GCs alone have never been compared in EGPA without poor-prognosis factors assessed by the 1996 Five Factor Score (FFS). We aimed to compare the efficacy of GCs plus CYC vs GCs alone for the treatment of EGPA without poor-prognosis, including among patients with severe manifestations.

Analysis of Gut-Homing Receptors in Circulating Mucosal-Associated Invariant T Cells and Their Presence in Synovial Tissue From Patients With Axial Spondyloarthritis.

Objective: Mucosal-Associated invariant T (MAIT) cells have been identified as being involved in the pathophysiology of axial spondyloarthritis (axSpA). We aimed to further investigate the phenotype of circulating MAIT cells in patients with axSpA by assessing the expression of an activation marker and Gut-Homing receptors, as well as the effects of tumor necrosis factor (TNF) blockade. The presence of MAIT cells in synovial biopsies from patients with axSpA was also studied.

Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from the FRENVEX group.

VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) syndrome is a severe monogenic disorder caused by somatic UBA1 mutations, characterized by inflammation, cytopenias and frequent association with myelodysplastic neoplasms (MDS). Steroid dependence is common, and targeted therapies have demonstrated limited efficacy. Azacitidine (AZA), a hypomethylating agent used in MDS, has shown potential in VEXAS but data remain limited.

Treatment of mixed connective tissue disease: A multicenter retrospective study.

Introduction: Mixed connective tissue disease (MCTD) is a rare systemic disorder that belongs to connective tissue diseases (CTD). Few studies are available on MCTD treatment.

Methods: We conducted an observational study within the French MCTD cohort.

Inhibition of LXR Signaling in Human Foam Cells Impairs Macrophage-to-Endothelial Cell Cross Talk and Promotes Endothelial Cell Inflammation.

Background: During atherogenesis, macrophages turn into foam cells by engulfing lipids present within the atheroma plaques. The shift of foam cells toward proinflammatory or anti-inflammatory phenotypes, a critical step in disease progression, is still poorly understood. LXRs (liver X receptors) play a pivotal role in the macrophage response to lipid, promoting the expression of key genes of cholesterol efflux, mitigating intracellular cholesterol accumulation.

Mepolizumab versus benralizumab for eosinophilic granulomatosis with polyangiitis (EGPA): A European real-life retrospective comparative study.

Background: Following the results of the MANDARA trial, this real-life study aimed at comparing the effectiveness and safety profile of mepolizumab versus benralizumab in a European EGPA cohort.

Methods: We conducted a retrospective observational comparative study including EGPA patients, who received mepolizumab or benralizumab at the asthma dose. Patients were matched 1:1 by sex, age, BVAS and oral corticosteroid (OCS) dosage at the treatment initiation (T0).

Giant cell arteritis: Role of surgery in the management of vascular complications.

Apart from life-threatening and/or functional emergencies, treatment of vascular lesions in giant cell arteritis (GCA) is medical. Revascularization may be considered if the lesion remains symptomatic or progressive despite optimal medical treatment, provided that there is no disease-related inflammation, and always managed by a team of trained experts. The main risk associated with aortic involvement (aortitis) is the development of an aneurysm, most often in the thoracic aorta, after several years of progression.

Association between large vessel vasculitis and inflammatory bowel disease: a case-control study.

Objectives: To describe the characteristics and outcome of patients with the association of large vessel vasculitis (LVV, Takayasu arteritis [TA] or GCA) and IBD.

Methods: An observational, multicentre, retrospective case-control study. Cases were LVV-IBD patients from European countries, whereas controls had isolated LVV (iLVV).

Neurological manifestations in patients with VEXAS syndrome.

Background: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described syndrome linked to somatic mutations in the UBA1 gene, causing systemic autoinflammatory manifestations. To date, few data are available concerning neurological manifestations. The aim of this study was to describe their prevalence, clinical spectrum and outcome under treatment.

Targeting interleukin-6 pathways in giant cell arteritis management: A narrative review of evidence.

Giant cell arteritis (GCA) is a chronic inflammatory vasculitis with a significant impact on vascular and patient health. It may present with non-specific symptoms and can lead to severe complications if not managed effectively. This narrative review explores the treatment of GCA with interleukin-6 (IL-6) pathway inhibitors, focusing on key studies from selected databases published between 2018 and 2024.

Avacopan for anti-neutrophil cytoplasm antibodies-associated vasculitis: a multicentre real-world study.

Objectives: Avacopan, a selective C5aR1 inhibitor, recently emerged as a glucocorticoid (GCs) sparing agent in anti-neutrophil cytoplasm antibodies (ANCA)-associated vasculitis (AAV). We aim to evaluate the tolerance and efficacy of avacopan given outside randomized clinical trials or with severe kidney involvement.

Methods: In this multicentre retrospective study, we reviewed the clinical charts of patients with AAV and contraindication to high dose of GCs who received avacopan 30 mg b.

Efficacy and safety of targeted therapies in VEXAS syndrome: retrospective study from the FRENVEX.

Objectives: Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease associated with somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutations. We aimed to evaluate the efficacy and safety of targeted therapies.

Methods: Multicentre retrospective study including patients with genetically proven VEXAS syndrome who had received at least one targeted therapy.

Prognostic value of 18 FDG-PET at diagnosis and follow-up in giant cell arteritis: An observational restrospective study.

Objectives: To evaluate the ability of FDG PET/CT, at diagnosis of giant cell arteritis (GCA) and during follow-up, to predict occurrence of relapse in large-vessel GCA (LV-GCA).

Methods: We conducted a retrospective study using the French Study Group for Large-Vessel Vasculitis (GEFA) network. Data from patients with LV-GCA diagnosed by PET/CT and who had PET/CT in the following year were collected.

Pro-angiogenic changes of T-helper lymphocytes in hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is a rare inherited disease due to heterozygous loss-of-function mutations on the BMP9/10 pathway ( or mainly). HHT endothelial cells are prone to lose their quiescence, leading to progressive appearance of numerous telangiectases on skin and mucosa (complicated by epistaxis and anemia), and to larger arteriovenous malformations in lungs, liver and brain. HHT is also associated with T lymphocyte abnormalities, which are currently poorly understood.

Giant cell arteritis associated with scalp, tongue or lip necrosis: A French multicenter case control study.

Background: Scalp, tongue and/or lip necrosis are rare complications of GCA.

Objectives: To describe characteristics and outcome of patients with giant cell arteritis (GCA) -related scalp, tongue and/or lip necrosis.

Methods: A retrospective nationwide multicenter study included 20 GCA patients with scalp, tongue, and/or lip necrosis diagnosed between 1998 and 2021 and 80 GCA control patients matched for age, sex and management period.