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Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency

Abstract : The type I interferonopathies, Mendelian disorders characterised by constitutive upregulation of the type I interferon (IFN) pathway, are associated with a spectrum of phenotypes particularly involving the brain and the skin.1 Mutations in the 3′−5′ DNA exonuclease TREX1 were the first described cause of the severe encephalopathy Aicardi-Goutières syndrome (AGS),2 of which acral vasculitic lesions are a well-recognised feature [...]
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https://hal-pasteur.archives-ouvertes.fr/pasteur-01962416
Contributor : Marie-Christine Vougny <>
Submitted on : Thursday, December 20, 2018 - 3:46:01 PM
Last modification on : Wednesday, August 19, 2020 - 11:18:36 AM

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Coralie Briand, Marie-Louise Frémond, Didier Bessis, Aurélia Carbasse, Gillian Rice, et al.. Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency. Annals of the Rheumatic Diseases, BMJ Publishing Group, 2018, pp.annrheumdis-2018-214037. ⟨10.1136/annrheumdis-2018-214037⟩. ⟨pasteur-01962416⟩

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