Presentation
STING-mediated autoinflammation
Contact
I am a Paediatric Immunologist and Rheumatologist at the Necker-Imagine campus in Paris, France, where I am a clinical expert in autoinflammatory disorders. My research focuses on the clinical and molecular characterisation of Mendelian type I interferonopathies, which are a group of inborn errors of immunity characterised by constitutive type I interferon signalling.
As a clinician-scientist, I aim to bridge the gap between genetic discovery and clinical application in order to improve the diagnosis, prognosis and treatment of these severe conditions. I am particularly interested in SAVI and COPA syndrome, two interferonopathies characterised by significant clinical and pathophysiological overlap and associated with severe profibrotic lung inflammation.
My current research team is dedicated to deciphering the mechanisms of pulmonary inflammation in SAVI and COPA syndrome, and to investigating the clinical variability and non-penetrance observed in COPA syndrome. By identifying potential novel biomarkers and targeted therapies, we hope to advance precision medicine for rare interferonopathies, while also providing insights that are relevant to more common inflammatory diseases.
Resources & publications
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Journal (source)Journal of allergy and clinical immunology 2020JAK inhibition in the type I interferonopathies.
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2020Journal (source)J Exp MedMutations in COPA lead to abnormal trafficking of STING to the Golgi and inte...
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2020Journal (source)Nat GenetcGAS-mediated induction of type I interferon due to inborn errors of histone ...
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2021Journal (source)J Exp MedEnhanced cGAS-STING-dependent interferon signaling associated with mutations ...
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2024Journal (source)J Exp MedGain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...
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2025Journal (source)Lancet NeurolAutoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
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2021Journal (source)Rheumatology (Oxford)Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associ...
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Journal (source)The journal of experimental medicine 2021Enhanced cGAS-STING-dependent interferon signaling associated with mutations ...
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2019Journal (source)Rheumatology (Oxford)Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defi...
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2020Journal (source)Nature geneticscGAS-mediated induction of type I interferon due to inborn errors of histone ...
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Journal (source)Journal of Allergy Clinical Immunology: In practice 2020
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among ...
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2021Journal (source)J Clin ImmunolDifferential Expression of Interferon-Alpha Protein Provides Clues to Tissue ...
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2021Journal (source)J Clin ImmunolSTING-Mediated Lung Inflammation and Beyond.
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Journal (source)The journal of experimental medicine 2017Detection of interferon alpha protein reveals differential levels and cellula...
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2018Journal (source)Nature communicationsType I interferon-mediated autoinflammation due to DNase II deficiency.
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Journal (source)The New England journal of medicine 2019Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome