Publications by authors named "Pierre Quartier"
The purpose of this study was to identify pediatric eosinophilic fasciitis, which is an extremely rare condition, in order to describe their clinical, paraclinical, and therapeutic characteristics. We made a call for observations via societies for pediatric rheumatology in France and surrounding countries and collected clinical and paraclinical data of the cases fulfilling the diagnostic criteria. Eight patients under 18 years of age with confirmed eosinophilic fasciitis followed between April 2004 and July 2022 in France, Germany, Italy, and Spain were included.
View Article and Find Full Text PDFBackground: Systemic inflammatory diseases (SIDs) have been reported in patients with sickle cell disease (SCD), but clinical data in children are scarce.
Objectives: To identify clinical and laboratory features at diagnosis of SID in children with SCD and to describe their evolution.
Methods: Data from children with SCD and SIDs were retrospectively collected in a French multicenter study from 1991 to 2018.
Background: Limited licensed medications are available for multiple sclerosis (MS) in pediatric patients.
Objective: To evaluate the efficacy, safety, and tolerability of alemtuzumab in pediatric patients with relapsing-remitting multiple sclerosis (RRMS) and disease activity on prior disease-modifying therapies (DMTs).
Methods: LemKids was a multicenter, multinational, single-arm, open-label, switch (from ongoing DMT to alemtuzumab treatment) study in pediatric RRMS patients (aged 10-<18 years), with disease activity on DMT.
Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.
View Article and Find Full Text PDFObjectives: A new form of systemic juvenile idiopathic arthritis (SJIA) with associated lung disease (SJIA-LD) has recently been described. Multiple lines of treatment have failed to yield satisfactory results for this disorder. JAK inhibitors (JAKis) have recently been approved for the treatment of JIA, but clinical evidence of their efficacy in SJIA-LD is still weak.
View Article and Find Full Text PDFUnlabelled: Systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD) are considered the same disease, but a common approach for diagnosis and management is still missing.
Methods: In May 2022, EULAR and PReS endorsed a proposal for a joint task force (TF) to develop recommendations for the diagnosis and management of sJIA and AOSD. The TF agreed during a first meeting to address four topics: similarity between sJIA and AOSD, diagnostic biomarkers, therapeutic targets and strategies and complications including macrophage activation syndrome (MAS).
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.
Article Synopsis
- Transitioning from pediatric to adult care is crucial for individuals with autoinflammatory diseases, yet the effectiveness of such programs, especially for specific diseases, is not well-researched.
- A study at the French National Reference Center reviewed medical records of 111 young adults with autoinflammatory diseases to analyze the impact of transition types on healthcare follow-up and disease management.
- Results indicated that those who underwent any form of transition had more regular follow-ups than those with no transition, and while the transition type didn't significantly affect disease control, collaborative approaches may enhance patient outcomes overall.
Article Synopsis
- The study aims to evaluate the current treatment approaches for macrophage activation syndrome (MAS) globally and identify inconsistencies in clinical practices.
- A thorough literature review resulted in 57 relevant papers involving 1148 patients with MAS, primarily linked to systemic juvenile idiopathic arthritis (sJIA), systemic lupus erythematosus (SLE), and Kawasaki disease (KD).
- Findings indicate high-dose glucocorticoids and certain targeted therapies, such as IL-1 and IFNγ inhibitors, are effective, particularly for sJIA-associated MAS, but highlight a need for more standardized research to improve treatment consistency for different conditions.
Article Synopsis
- Autoimmune lymphoproliferative syndrome (ALPS) is a condition where the body's immune system doesn't work properly, causing problems like too many immune cells and a higher chance of cancer.
- This research focused on understanding a specific gene called CASP10 to see if it affects ALPS, looking at different changes in that gene in some patients.
- The results showed that changes in the CASP10 gene didn't really affect how a process called apoptosis (cell death) works in people with ALPS, suggesting that CASP10 isn't important for causing this condition.
Objectives: We aimed to compare clinical spectrum and outcome between adults and children with Takayasu's arteritis (TAK) in a European population.
Methods: We made a nationwide retrospective observational study between 1988 and 2019. All adult patients met the ACR diagnostic criteria for TAK and all children met the EULAR/PRINTO/PRES criteria for paediatric TAK.
Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here, we use forward and reverse genetics to identify 59 individuals harboring one of four heterozygous JAK1 variants.
View Article and Find Full Text PDFObjective: The aim of this study was to report the interim 5-year safety and effectiveness of abatacept in patients with JIA in the PRINTO/PRCSG registry.
Methods: The Abatacept JIA Registry (NCT01357668) is an ongoing observational study of children with JIA receiving abatacept; enrolment started in January 2013. Clinical sites enrolled patients with JIA starting or currently receiving abatacept.
It has been increasingly recognized that there is a subset of patients with refractory systemic JIA, who have failed all available medications and may benefit from HSCT. The increasing experience with HSCT in SJIA, suggests that despite the complicated post-HSCT course, short-term, the transplanted patients either achieved SJIA remission or reduced burden of disease. Longer follow-up, however, is needed to better define the long-term outcomes.
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- In a study of 183 unvaccinated children hospitalized for COVID-19 pneumonia, 10.4% had autoantibodies that neutralized type I interferons (IFNs), specifically targeting IFN-α2 and IFN-ω in varying combinations.
- Among the children with autoantibodies, 3.8% neutralized higher levels of IFN-α2, while the rest had lower neutralization capabilities, and some uninfected children also displayed similar antibodies.
- The presence of these autoantibodies significantly increased the odds of developing severe COVID-19 pneumonia, particularly those neutralizing higher concentrations of IFN-α2 compared to those neutralizing IFN-ω.
Gain-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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- Medical child abuse (MCA) is a serious issue where adults intentionally harm children’s health, and there is limited data on its occurrence in adolescents.
- A study of 29 adolescents with suspected or confirmed MCA revealed significant medical wandering, with them visiting multiple hospitals and undergoing numerous tests, and most had underlying health issues.
- MCA severely affects the quality of life, leading to high school dropout rates and a long delay in diagnosis, highlighting the need for better awareness and education among medical professionals.
Article Synopsis
- 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.