Publications by authors named "Brigitte Bader Meunier"
Article Synopsis
- Hereditary C1q deficiency (C1QDef) is a rare genetic disorder that disrupts the complement system and can cause symptoms similar to systemic lupus erythematosus (SLE).
- A study of 12 genetically confirmed C1QDef patients showed elevated expression of interferon-stimulated genes and high levels of interferon alpha in their blood and cerebrospinal fluid, indicating significant immune dysfunction.
- Treatment with Janus-kinase inhibitors had mixed results, with one patient improving while others continued to struggle with their condition, highlighting the complexity of managing C1QDef.
Because Systemic Lupus Erythematosus (SLE) is a rare disease, and due to the significant prognostic impact of early management, a diagnosis confirmed by a physician with experience in SLE is recommended, for example from an expert center. Once the diagnosis is confirmed, existing manifestations should be identified in particular, renal involvement by an assessment of proteinuria, disease activity and severity should be determined, potential complications anticipated, associated diseases searched for, and the patient's socioprofessional and family context noted. Therapeutic management of SLE includes patient education on recognizing symptoms, understanding disease progression as well as when they should seek medical advice.
View Article and Find Full Text PDFBackground: Transitioning from pediatric to adult care is a critical step for individuals with autoinflammatory diseases, requiring effective programs to ensure continuity of care and disease management. Despite various recommendations, the effectiveness of transition programs, particularly in monogenic autoinflammatory diseases, remains understudied.
Methods: A single-center medical records review study was conducted at the French National Reference Center for Adult Autoinflammatory Diseases in Tenon Hospital from 2017 to 2023.
Background: After introducing IL-1/IL-6 inhibitors, some patients with Still and Still-like disease developed unusual, often fatal, pulmonary disease. This complication was associated with scoring as DReSS (drug reaction with eosinophilia and systemic symptoms) implicating these inhibitors, although DReSS can be difficult to recognize in the setting of systemic inflammatory disease.
Objective: To facilitate recognition of IL-1/IL-6 inhibitor-DReSS in systemic inflammatory illnesses (Still/Still-like) by looking at timing and reaction-associated features.
Article Synopsis
- UNC93B1 is a protein involved in signaling for Toll-like receptors, which are important for the immune response.
- Mutations in UNC93B1 (I317M, G325C, L330R, R466S, and R525P) have been linked to conditions like systemic lupus erythematosus (SLE) and chilblain lupus (CBL), exhibiting both autosomal dominant and recessive inheritance patterns.
- Different mutations impact the activity of TLR7 and TLR8 differently, suggesting that specific mutations in UNC93B1 lead to varying disease mechanisms for SLE and CBL.
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by its large heterogeneity in terms of clinical presentation and severity. The pathophysiology of SLE involves an aberrant autoimmune response against various tissues, an excess of apoptotic bodies, and an overproduction of type-I interferon. The genetic contribution to the disease is supported by studies of monozygotic twins, familial clustering, and genome-wide association studies (GWAS) that have identified numerous risk loci.
View Article and Find Full Text PDFAdipose tissue is a highly immunologically active tissue that can be involved in many inflammatory diseases. In this presentation, only adipose tissue disorders associated with inflammatory diseases in children will be described, with the exception of obesity.
View Article and Find Full Text PDFBackground: In juvenile systemic lupus erythematosus (j-SLE) with neuropsychiatric (NP) symptoms, there is a lack of diagnostic biomarkers. Thus, we study whether PET-FDG may identify any metabolic dysfunction in j-NPSLE.
Methods: A total of 19 FDG-PET exams were consecutively performed using PET-MRI system in 11 non-sedated patients presenting with j-NPSLE (11-18y) for less than 18 months (m) and without any significant lesion at MRI.
Article Synopsis
- NLRP3-associated autoinflammatory disease is a collection of genetic disorders caused by mutations that lead to increased activity of the NLRP3 protein, which complicates diagnosis despite effective treatments available.
- The study explores 34 different NLRP3 mutations, illustrating their functional differences based on how they respond to various signals that activate them, and highlights their link to symptom severity and misdiagnosis.
- Findings reveal critical areas in the NLRP3 protein that affect its activity and response to treatments, offering new perspectives on the disorder's variability and potential directions for improving diagnosis and therapy.
Article Synopsis
- Juvenile systemic lupus erythematosus (j-SLE) is a rare autoimmune disease affecting multiple organs, with neuropsychiatric involvement (j-NPSLE) leading to higher morbidity and mortality rates in affected youth.
- *In a retrospective study of j-SLE patients, 44% were diagnosed with j-NPSLE, showcasing common symptoms such as cognitive issues, hallucinations, and mood disorders, with imaging revealing nonspecific brain changes.
- *The study developed a risk score based on clinical features and cerebrospinal fluid analysis to improve the diagnosis and management of j-NPSLE, emphasizing the importance of early recognition and treatment.
Autoimmune cytopenia (AIC) in children may be associated with positive antinuclear antibodies (ANA) and may progress to systemic lupus erythematosus (SLE). We evaluated the risk of progression to SLE of childhood-onset ANA-associated AIC. In the French national prospective OBS'CEREVANCE cohort, the long-term outcome of children with ANA-associated AIC (ANA titer ≥1/160) and a subgroup of children who developed SLE were described.
View Article and Find Full Text PDFGain-of-function mutations in stimulator of interferon gene 1 (STING1) result in STING-associated vasculopathy with onset in infancy (SAVI), a severe autoinflammatory disease. Although elevated type I interferon (IFN) production is thought to be the leading cause of the symptoms observed in patients, STING can induce a set of pathways, which have roles in the onset and severity of SAVI and remain to be elucidated. To this end, we performed a multi-omics comparative analysis of peripheral blood mononuclear cells (PBMCs) and plasma from SAVI patients and healthy controls, combined with a dataset of healthy PBMCs treated with IFN-β.
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- Activated monocytes contribute to chronic inflammatory diseases like Juvenile Idiopathic Arthritis (JIA), causing damage to joints and highlighting a need for new treatment strategies.
- The study investigated the histamine analog clobenpropit (CB) as a potential therapy targeting the CXCR4 receptor on monocytes, showing it reduces the production of inflammatory cytokines in both JIA patients and arthritic mice.
- CB treatment led to significant improvements in mouse models, decreasing inflammation and joint damage, suggesting it could be a promising therapeutic option alongside current treatments for rheumatoid arthritis.
Article Synopsis
- Accurate and standardized phenotypic descriptions are crucial for diagnosing rare diseases, leading to the development of the Human Phenotype Ontology (HPO) system, which organizes these descriptions hierarchically.
- This study investigates whether improved HPO terms for systemic autoinflammatory diseases (SAIDs) enhance the identification of these conditions among patients.
- Results indicate that HPO curation significantly boosted correct SAID diagnoses from 66% to 86% and streamlined genome diagnostics, reducing the average candidate diseases for interpretation from 35 to 2.
Article Synopsis
- Interstitial pneumonia with autoimmune features (IPAF) is a condition in kids that affects their lungs and is linked to autoimmunity, similar to a disease seen in adults.
- In a study with 27 children, 6 were found to have IPAF, while others had different autoimmune diseases like juvenile dermatomyositis.
- Most kids with IPAF responded well to treatment, and they had better lung health compared to those with other autoimmune lung diseases, but more studies are needed to learn more about IPAF in children.
Article Synopsis
- - The study investigates the relationship between genetic factors and the severity of adult hemophagocytic lymphohistiocytosis (HLHa), focusing on gene variants related to HLH.
- - Clinical data from 130 HLHa patients, including their genotypes for 8 specific HLH-related genes, were analyzed to assess disease outcomes, with findings showing a significant association between the number of genetic variants and severity of HLHa.
- - Results indicate that HLH gene variants can impact the severity and treatment resistance in HLHa patients, highlighting their potential role in understanding the condition better.
An European Alliance of Associations for Rheumatology task force recently recommended specific points to consider for exploring type I interferon pathway in patients, highlighting the lack of analytical assays validated for clinical routine. We report here the French experience on a type I interferon pathway assay that has been set up and used routinely since 2018 in Lyon, France.
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- Aicardi-Goutières syndrome (AGS) is an immune-mediated disorder primarily affecting the nervous system, and conventional treatments are largely ineffective.
- A study on JAK1/2 inhibitors showed significant improvement in systemic symptoms of AGS over a median follow-up of 17 months, although neurological benefits were less clear.
- The findings highlight the need for better treatment strategies for AGS's neurological symptoms, emphasizing early diagnosis and potential intrathecal drug delivery for improved outcomes.
Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. This is highlighted by the DOCK2 and DOCK8 deficiencies leading to actinopathies and immune deficiencies. DOCK8 and DOCK11 activate CDC42, a Rho-guanosine triphosphate hydrolases involved in actin cytoskeleton dynamics, among many cellular functions.
View Article and Find Full Text PDFPrenatal immune-mediated events are known risk factors for neurodevelopmental disorders in the offspring (NDD). Although the brain continues to develop for years after birth and many postnatal factors alter the regular trajectory of neurodevelopment, little is known about the impact of postnatal immune factors. To fill this gap we set up ARTEMIS, a cohort of juvenile rheumatisms and systemic autoimmune and auto-inflammatory disorders (jRSAID), and assessed their neurodevelopment.
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