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Introduction
Publications
Publications (300)
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 a...
Background and aims
Systemic sclerosis (SSc) is an autoimmune connective disease characterised by excessive extracellular matrix deposition and widespread skin and internal organ fibrosis including various cardiac manifestations. Heart involvement is one of the leading causes of death among patients with SSc. In this study, we aimed to assess the e...
Objectives
Ceruloplasmin is an inhibitor of myeloperoxidase (MPO) activity that plays an important role in the pathophysiology of anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV). This study aimed to evaluate the prognostic impact of serum level of ceruloplasmin at diagnosis in patients with anti-MPO antibody-positive AAV.
Methods...
Background
Efficacy and tolerance of anakinra (ANK) in the treatment of giant cell arteritis (GCA) need to be assessed.
Methods
This phase 3 study (NCT02902731) was a prospective multicenter, randomized, double-blind, placebo-controlled trial conducted over a 52-week period. GCA patients were randomized 1:1. From inclusion to week 16 (W16), patien...
ApoE−/− mice are a widely used preclinical model of atherosclerosis, potentially accelerated by a Western diet (WD) or uremia. We aimed to compare hybrid ¹⁸F-fluorodeoxyglucose (¹⁸F-FDG) positron emission tomography-magnetic resonance (PET-MR) and immunostaining in ApoE−/− models of accelerated atherosclerosis. Five groups were studied: standard di...
Background
rare diseases (RD) have progressively emerged as public health priority in many countries. Epidemiology still presents obstacles and extracting data from public health system remains insufficient. In France, RD database set up in 2013 as Banque Nationale de Données de Maladies Rares (BNDMR). Patients’ information is provided by physician...
Background
VEXAS syndrome is an autoinflammatory disease associated with somatic mutations in the UBA1 gene, which is located on the X chromosome, which explains the male preponderance of the disease [1]. Several case reports of females with VEXAS syndrome due to constitutional or acquired X monosomy have been published [2].
Objectives
Our aim was...
Background
VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a severe autoinflammatory disease in adults resulting from somatic mutations in the UBA1 gene, associated with myelodysplastic syndromes (MDS) in 40-50% patients. The therapeutic management of VEXAS syndrome is poorly standardized, although the efficacy of azaci...
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...
Seventy‐seven patients with antiphospholipid syndrome were tested for autoantibodies against C1q, C3, FB, FH, and C4bp. Fifty‐seven patients had at least one anti‐complement antibody. IgM anti‐FH positivity was associated with thrombosis when anti‐C3 and anti‐FB were, negatively or positively, associated with various noncriteria manifestations of a...
Objectives: To identify factors associated with the progression of giant cell arteritis (GCA)-related or associated aortic dilations. Methods: In this retrospective study, 47 GCA patients with aortic dilation were longitudinally analyzed. Each patient underwent ≥2 imaging scans of the aorta during the follow-up. Three progression statuses of aortic...
Background and Aims
Systemic mastocytosis (SM) is characterized by the accumulation of atypical mast cells (MCs) in organs. Liver histology of SM has been marginally described and accurate histological classification is critical, given the consequences of aggressive SM diagnosis. We aimed to describe the histological features associated with liver...
Objectives
To assess the frequency and characteristics of severe relapse in patients with giant cell arteritis (GCA) in a real-life setting.
Methods
In a monocentric database of 530 patients, we retrospectively analysed patients who experienced at least one relapse and distinguished severe from nonsevere relapses. Severe relapse was defined by the...
Facial and neckline telangiectasias have an underestimated yet important impact on quality of life of patients with systemic scleroderma (SSc). This monocentric, prospective, open-label, intra-patient comparative study was conducted in 21 consecutive patients with SSc. Patients underwent 4 sessions of PDL 8 weeks apart. A final quadruple assessment...
Introduction
This study aimed to provide an updated analysis of the different prognostic trajectories of patients with anti-melanoma differentiation-associated gene 5 (MDA5) antibodies.
Methods
Among a cohort of 70 patients, baseline characteristics and phenotypes, treatments and outcomes were analyzed. A Cox proportional hazards model was used to...
L’haploinsuffisance de A20 (HA20) est une maladie auto-inflammatoire monogénique, associée à
des mutations de transmission autosomique dominante du gène TNFAIP3. Elle entraîne un défaut
d’inactivation de la voie pro-inflammatoire du NF-B. Moins de 200 cas ont été décrits dans le monde. Le
tableau clinique de la maladie repose essentiellement sur un...
Introduction
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an acquired autoinflammatory monogenic disease with a poor prognosis whose determinants are not well understood. We aimed to describe serious infectious complications and their potential risk factors.
Methods
Retrospective multicentre study including patients...
Dear Editor, We read with great interest the article by Fagart et al. that was published in Rheumatology [1], and we would like to report two other cases. Two male patients aged 62 (P1) and 55 (P2) years, who were referred for persistent fever with a 4-kilogram loss of weight and severe myalgia evolving for 1 month, exhibited a normal physical exam...
Background
Metabolic imaging is routinely used to demonstrate aortitis in patients with giant-cell arteritis. We aimed to investigate the preclinical model of aortitis in BALB/c IL1rn−/− mice using [¹⁸F]fluorodeoxyglucose ([¹⁸F]FDG) positron emission tomography–magnetic resonance (PET-MR), gamma counting and immunostaining. We used 15 first-generat...
Objectives: To determine how therapeutic strategies for giant cell arteritis (GCA), especially glucocorticoid (GC) management, evolved between 2014 and 2020. Patients and Methods: Consecutive GCA patients followed for at least 24 months in a single tertiary center were enrolled and separated into two groups: those diagnosed from 2014 to 2017 and th...
Objective
There is limited evidence on when to obtain a central nervous system (CNS) biopsy in suspected primary angiitis of the central nervous system (PACNS). Our objective was to identify which clinical and radiological characteristics were associated with a positive biopsy in PACNS.
Methods
From the multicenter retrospective Cohort of Patients...
Objective:
Data on obstetric outcomes in patients with a history of immunoglobulin A vasculitis (IgA-V) are lacking. The aim of this study was to assess maternal, neonatal, and vasculitis outcomes during pregnancy.
Method:
We conducted a French retrospective case-control study. Pregnancies of patients with a history of IgA-V (cases) were retrosp...
Background:
Few studies have evaluated mouth opening (MO) in systemic sclerosis (SSc). None have studied MO trajectories.
Objective:
To study MO trajectories in SSc.
Methods:
This multicentre study included patients enrolled in the French national SSc cohort with at least one MO assessment, described patients based on MO baseline measure, mode...
Objective:
Data on ANCA-associated vasculitis (AAV) induced by anti-thyroid drugs (ATD) are scarce. We aimed to describe the characteristics and outcome of these patients in comparison to primary AAV.
Methods:
We performed a retrospective multicenter study including patients with ATD-induced AAV. We focused on ATD-induced microscopic polyangiiti...
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. While the pathogenic effect of TNFAIP3 truncating variations is clearly...
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. While the pathogenic effect of TNFAIP3 truncating variations is clearly...
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. While the pathogenic effect of TNFAIP3 truncating variations is clearly...
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. While the pathogenic effect of TNFAIP3 truncating variations is clearly...
Objectives
In this large multicentre study, we compared the effectiveness and safety of tocilizumab intravenous versus subcutaneous (SC) in 109 Takayasu arteritis (TAK) patients.
Methods
We conducted a retrospective multicentre study in referral centres from France, Italy, Spain, Armenia, Israel, Japan, Tunisia and Russia regarding biological-targ...
Objectives:
To assess the indications, efficiency and tolerance profiles of methotrexate (MTX) in patients with giant cell arteritis (GCA) in a real-life setting.
Methods:
From a monocentric database of >500 GCA patients, we retrospectively selected 49 patients who received MTX between 2010 and 2020. Cumulative glucocorticoid (GC) doses, the num...
Introduction:
ANCA-associated vasculitis (AAV) is an exceptional cause of small and large vascular aneurysms. Here, we present the phenotypic characteristics of patients with AAV associated with the presence of aneurysms.
Methods:
We conducted a retrospective multicenter study and a systematic review of the literature. Only AAV patients with pos...
Background
Primary angiitis of the central nervous system (PACNS) is a rare disease, for which no validated guidelines exist. We report the findings of a survey on the clinical practice of physicians who manage adults with PACNS.
Methods
An online survey was distributed through neurology, internal medicine, and rheumatology societies in Canada and...
Introduction:
Acquired hemophilia A (AHA) is a rare autoimmune hemorrhagic disease occurring in several underlying conditions. Drug-associated AHA (D-AHA) is poorly addressed nowadays.
Aim:
This work aims to identify and characterize which drugs are associated with AHA using the WHO global database of reported potential effects of medicinal prod...
Familial Mediterranean fever (FMF) patients may have hepatic cytolysis, although its origin is not formally elucidated. We aimed to evaluate liver involvement in familial Mediterranean fever (FMF) using non-invasive methods. All adult FMF patients harboring two non-ambiguous mutations of the MEFV gene with hepatic cytolysis were identified in a Fre...
Objectives
: To analyze whether beta-blockers (BBs), in addition to conventional care, can decrease the risk of aortic dilation in giant-cell arteritis (GCA)-related aortitis.
Methods
: We conducted in a single medical center retrospective study including 65 consecutive patients with GCA-related aortitis who all underwent aortic morphology control...
Objective
We aimed to investigate whether anakinra, an interleukin-1receptor inhibitor, could improve outcome in moderate COVID-19 patients.
Methods
In this controlled, open-label trial, we enrolled adults with COVID-19 requiring oxygen. We randomly assigned patients to receive intravenous anakinra plus optimized standard of care (oSOC) vs. oSOC a...
A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3 , the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. While the pathogenic effect of TNFAIP3 truncating variations is clearl...
Anti-U1-RNP antibodies are necessary for the diagnosis of mixed connective tissue disease (MCTD), but they are also prevalent in other connective tissue diseases, especially systemic lupus erythematosus (SLE), from which distinction remains challenging. We aimed to describe the presentation and outcome of patients with anti-U1-RNP antibodies and to...
Objective
The pathophysiological mechanisms involved in systemic sclerosis (SSc), especially the triggering factor, are poorly understood. The literature supporting the role of drugs in the onset of SSc primarily relies on case reports, short series or previous studies of old drugs. We aimed to update the list of suspected drugs associated with SSc...
Objective:
There is currently no evidence of the possible benefit of plasma cell-targeting therapies (PCTT) in immunoglobulin A (IgA) monoclonal gammopathy (MG) associated with IgA vasculitis (IgAV). We report the outcome of different PCTT regimens in a cohort of MG-IgAV.
Methods:
We used a French network to retrospectively describe the outcome...
Objective:
The incidence rate of giant cell arteritis (GCA) is poorly studied in France. Therefore, we conducted a national hospital database study to assess the overall and regional incidence rates of GCA in France, including overseas territories.
Methods:
Through the national hospitalization database of all patients hospitalized in France, new...
Objective:
Diffuse large B-cell lymphoma can complicate the course of B-cell primary immunodeficiencies or induce lowering of total gamma globulin levels, whose clinical status as an effective secondary immunodeficiency remains unspecified. This study aimed to assess the frequency, and clinical and prognostic relevance of the low total gamma-globu...
Dear Editor,
We read with great interest the study by Tezcan et al. [1] on kynurenines in familial Mediterranean fever (FMF). We agree with the authors that the kynurenine pathway (KP) of tryptophan metabolism deserves further studies in FMF for two main reasons.
First, as reminded by the authors, the increased levels of proinflammatory cytokines i...
Objective
To investigate whether antineutrophil cytoplasm antibody (ANCA)-negative and myeloperoxidase (MPO)-ANCA–positive granulomatosis with polyangiitis (GPA) differ from proteinase-3 (PR3)-ANCA–positive GPA.
Methods
Diagnostic characteristics and outcomes of newly diagnosed French Vasculitis Study Group Registry patients with ANCA-negative, MP...
Objectives:
To describe the impact of cumulative glucocorticoid (GC) doses on related adverse events (AEs) in giant cell arteritis (GCA) in a real-life setting.
Methods:
The medical charts of the last 139 consecutive GCA patients followed in a tertiary centre were retrospectively analysed. The cumulative GC doses were calculated, and the main GC...
Objective
Joint involvement can be observed during the course of adult IgA vasculitis (IgAV). However, clinical picture, prognosis, or pathophysiological data associated with this condition have been overlooked. We aimed to describe the clinical characteristics and outcome of IgAV patients with joint involvement and look to a specific cytokine prof...
Objective
To assess patients’ self-reported glucocorticoid (GC)-related adverse events (AEs) in a giant cell arteritis (GCA) population.
Methods
A questionnaire was sent to the 100 patients most recently diagnosed with GCA in a tertiary center. This autoquestionnaire included open- and close-ended questions on the disease and GC effects. Eight pri...
Objective
The literature supporting the role of a specific drug in the onset of drug‐induced antineutrophil cytoplasmic antibody–associated vasculitis (AAV) mainly relies on case reports or short series and implicates old treatments. The advent of new treatments may have modified the epidemiology of these adverse drug reactions. This study was unde...
Little is known about the impact of giant cell arteritis (GCA) and its treatment on patient-reported physical, mental, and psychic quality of life (QoL). In this monocentric study, a questionnaire was sent to the 100 last patients diagnosed with GCA and followed-up in a single tertiary center. Their physical, mental and psychic status were self-ass...
Background
MDS are associated in 10% to 25% of the cases with systemic inflammatory or auto-immune diseases (SIAD). The management of SIADs in this context includes glucocorticoids and biologics with variable response rates, but we and others found that hypomethylating agents, especially azacytidine (AZA), can have some efficacy in SIADs associated...
Azacitidine can be effective in myelodysplastic syndromes (MDS) associated with inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome (VEXAS) is a new monogenic autoinflammatory syndrome caused by somatic ubiquitin‐like modifier‐activating enzyme 1 (UBA1) mutation, often associated with MDS, whose treat...
We report the case of a 76-year-old woman with relapsing giant-cell arteritis and large-vessel vasculitis demonstrated on 18F-FDG-PET/CT. Methotrexate and tocilizumab failed to achieve remission, and the patient ultimately exhibited a favorable clinical and radiological response to baricitinib, a JAK inhibitor. This case suggests that baricitinib m...
Objective
To describe the main features at diagnosis and evolution over time of patients with localised granulomatosis with polyangiitis (L-GPA) compared to those of systemic GPA (S-GPA).
Methods
EULAR definitions of L-GPA, i.e., upper and/or lower respiratory tract involvement, and S-GPA were applied to patients from the French Vasculitis Study G...
Objective:
To assess safety and efficacy of TNF-α antagonists and tocilizumab in patients with Takayasu arteritis (TAK).
Methods and results:
Two-hundred nine patients with TAK [median age of 29 years [7-62], and 186 (89%) females] were included. They received either TNF-α antagonists [n = 132 (63%) with 172 lines; infliximab (n = 109), adalimum...
Introduction
Double-positive patients (DPP) exhibiting anti-glomerular basement membrane (GBM) and anti-neutrophil cytoplasmic antibodies (ANCAs) belong to an entity that is newly and poorly described, mainly in short series. We aimed to better characterize the epidemiological features, clinical presentation and therapeutic outcomes of these patien...
Purpose
Acquired hemophilia (AH) is a rare, serious bleeding disorder most often associated with older age and life-threatening complications. The patient care pathway for AH is complex because of the different types of bleeding, the presence of comorbidities, and the heterogeneity of medical specialists who care for these patients.
Methods
This o...