Publications by authors named "S Meynier"
Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of patients with GPS develop autoimmunity through an unknown mechanism, which might be related to the proteins NBEAL2 interacts with, specifically in immune cells. Here we show a comprehensive interactome of NBEAL2 in primary T cells, based on mass spectrometry identification of altogether 74 protein association partners.
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- - The article explores the ocular symptoms linked to a specific gene mutation and reviews related literature, focusing on five unrelated patients with fundus lesions and visual loss, alongside a history of hepatosplenomegaly.
- - Comprehensive testing ruled out other conditions like infections and inflammatory diseases, while molecular analysis with next-generation sequencing identified common ophthalmological issues in two cases, such as chronic macular edema and optic nerve damage in others.
- - Despite using Ruxolitinib for treatment, eye conditions did not improve overall; however, findings from genetic analysis underline the significance of the identified gene mutation and suggest whole-exome sequencing benefits in diagnosing rare clinical features.
Background: The outbreak of chilblain-like lesions (CLL) during the COVID-19 pandemic has been reported extensively, potentially related to SARS-CoV-2 infection, yet its underlying pathophysiology is unclear.
Objectives: To study skin and blood endothelial and immune system activation in CLL in comparison with healthy controls and seasonal chilblains (SC), defined as cold-induced sporadic chilblains occurring during 2015 and 2019 with exclusion of chilblain lupus.
Methods: This observational study was conducted during 9-16 April 2020 at Saint-Louis Hospital, Paris, France.
Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children is generally milder than in adults, but a proportion of cases result in hyperinflammatory conditions often including myocarditis.
Methods: To better understand these cases, we applied a multiparametric approach to the study of blood cells of 56 children hospitalized with suspicion of SARS-CoV-2 infection. Plasma cytokine and chemokine levels and blood cellular composition were measured, alongside gene expression at the bulk and single-cell levels.
Juvenile myelomonocytic leukaemia (JMML) is a rare clonal disorder of early childhood. Constitutive activation of the RAS pathway is the initial event in JMML. Around 90% of patients diagnosed with JMML carry a mutation in the PTPN11, NRAS, KRAS, NF1 or CBL genes.
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