Publications by authors named "Cecile Dumaine"

Background: Scurvy, historically rare in-high income countries, has re-emerged as an indicator of socioeconomic and dietary disparities. Limited data exist on scurvy trends among European children, particularly following socioeconomic changes since the COVID-19 pandemic. This study analysed scurvy incidence trends among French children over a nine-year period, examining potential post-pandemic increases.

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  • - The study reviewed 11 pediatric patients diagnosed with neurosarcoidosis (NS), predominantly affecting girls, with an average diagnosis age of around 10 to 11.5 years, highlighting typical neurological symptoms such as headaches and eye involvement.
  • - Most patients experienced meningitis and were treated primarily with corticosteroids and TNF-alpha inhibitors, with eight out of 11 requiring biologic therapies to achieve remission.
  • - The findings emphasize the importance of recognizing the clinical features of pediatric NS and suggest that early intervention with TNF-alpha biologics can lead to better management outcomes for these children.
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Importance: Henoch-Schönlein purpura (HSP) is the most common type of vasculitis in children. The factors that trigger the disease are poorly understood. Although several viruses and seasonal bacterial infections have been associated with HSP, differentiating the specific associations of these pathogens with the onset of HSP remains a challenge due to their overlapping seasonal patterns.

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  • 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.
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Objective: To examine whether the COVID-19 pandemic was associated with an increased incidence of uveitis in children.

Study Design: We performed a time-series analysis of patient records from a national, hospital-based, French surveillance system. All children hospitalized for uveitis in France between January 2012 and March 2022 were included.

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Background: Kawasaki disease is an acute, febrile, systemic vasculitis of children that primarily affects medium-sized blood vessels with a tropism for the coronary arteries. Although the etiological factors remain unknown, infections have been suggested as the trigger of Kawasaki disease. We sought to calculate the fraction of Kawasaki disease potentially attributable to seasonal infections.

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Prenatal 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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Objectives: Glucocorticoid-induced adrenal insufficiency (GI-AI) is a common side effect of glucocorticoid therapy. However, its diagnosis currently relies on the realization of a Low Dose Short Synacthen Test (LD-SST) that requires an outpatient hospital and several blood samples. Our goal was to evaluate whether morning cortisol values could predict the response to LD-SST, in children, to avoid useless dynamic tests and facilitate diagnosis of glucocorticoid induced adrenal insufficiency.

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Introduction: Juvenile systemic lupus erythematosus (j-SLE) is a rare chronic autoimmune disease affecting multiple organs. Ranging from minor features, such as headache or mild cognitive impairment, to serious and life-threatening presentations, j-neuropsychiatric SLE (j-NPSLE) is a therapeutic challenge. Thus, the diagnosis of NPSLE remains difficult, especially in pediatrics, with no specific biomarker of the disease yet validated.

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Background: Early identification of high-risk patients is essential to stratify treatment algorithms of Kawasaki disease (KD) and to appropriately select patients at risk for complicated disease who would benefit from intensified first-line treatment. Several scores have been developed and validated in Asian populations but have shown low sensitivity in predicting intravenous immunoglobulin (IVIG) resistance in non-Asian populations. We sought methods to predict the need for secondary treatment after initial IVIG in non-Asian populations.

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  • The study examined the use of Tumor Necrosis Factor inhibitors (anti-TNF) to treat inflammatory choroidal neovascularization (CNV) in children under 16 years old.
  • Three pediatric patients received various treatments, including anti-TNF additives, after experiencing persistent leakage.
  • Results indicated that four out of five affected eyes showed improved vision and reduced fluid, demonstrating that anti-TNF agents are effective and safe for managing this condition in young patients.*
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  • Juvenile idiopathic arthritis (JIA) is the most prevalent chronic rheumatic disease in children, and the underlying causes are still not well understood, particularly in cases with genetic factors like LACC1 mutations.
  • This study investigated four families with early-onset arthritis and identified that mutations in LACC1 lead to deficiencies in macrophage autophagy, a crucial cellular process.
  • The findings suggest that LACC1 plays a significant role in macrophage energy metabolism and could be linked to a new genetic type of juvenile arthritis due to its impact on autophagy functions.
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  • Neonatal hyperthyroidism can arise from genetic disorders or high maternal TRAb levels, often linked to maternal Graves' disease, necessitating a study on its prevalence and thyroid function variations in affected newborns.
  • An observational cohort study over 13 years tracked 34 neonates, classifying them into categories of hyperthyroidism, hypothyroidism, or normal thyroid function based on their mother's TRAb levels.
  • Findings revealed that 6% had permanent non-autoimmune hyperthyroidism, while most with high TRAb exhibited transient hyperthyroidism or hypothyroidism, emphasizing the importance of ongoing thyroid monitoring in these infants to improve early detection and reduce health risks.
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Whilst upregulation of type I interferon (IFN) signaling is common across the type I interferonopathies (T1Is), central nervous system (CNS) involvement varies between these disorders, the basis of which remains unclear. We collected cerebrospinal fluid (CSF) and serum from patients with Aicardi-Goutières syndrome (AGS), STING-associated vasculopathy with onset in infancy (SAVI), presumed monogenic T1Is (pT1I), childhood systemic lupus erythematosus with neuropsychiatric features (nSLE), non-IFN-related autoinflammation (AI) and non-inflammatory hydrocephalus (as controls). We measured IFN-alpha protein using digital ELISA.

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Objectives: To assess the incidence rate and type of serious adverse events (SAE) in children with rheumatic inflammatory diseases treated with the interleukin 6 blocker tocilizumab (TCZ).

Methods: A retrospective review of all consecutive patients diagnosed with an inflammatory rheumatic disease and receiving at least one dose of TCZ was performed in two French tertiary pediatric rheumatology centers between 01/2007 and 06/2019. SAE were defined as a life-threatening event and/or an event requiring hospital admission, leading to permanent disability or treatment discontinuation.

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  • - The study examines two subtypes of juvenile idiopathic inflammatory myopathy (JIIM) associated with anti-MDA5 autoantibodies, finding they have distinct clinical features compared to other JIIM types, such as more arthritis and skin ulcerations but less severe muscle involvement.
  • - Researchers analyzed 64 patients from French pediatric rheumatology centers, using muscle biopsies and measuring IFNα serum protein levels to assess disease status and treatment outcomes.
  • - The findings indicate that systemic IFNα plays a significant role in the pathology of JIIM with anti-MDA5 autoantibodies, suggesting it could be a target for treatment in severe cases.
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  • - The study aimed to evaluate the incidence of infectious adverse events (IAE) in children with juvenile idiopathic arthritis (JIA) undergoing treatment with biological agents from January 2001 to August 2015.
  • - Analyzing data from 677 patients over 3075.4 person-years, 184 infectious events were identified, with a higher risk associated with IL-6 and IL-1 antagonists compared to TNF inhibitors; most infections were mild and affected the upper respiratory tract.
  • - Overall, while infectious complications are rare in these patients, they generally present as mild to moderate conditions, with no severe outcomes like tuberculosis or death reported during the study period.
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Life-threatening pulmonary influenza can be caused by inborn errors of type I and III IFN immunity. We report a 5-yr-old child with severe pulmonary influenza at 2 yr. She is homozygous for a loss-of-function allele.

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