Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency - Archive ouverte HAL Access content directly
Journal Articles Annals of the Rheumatic Diseases Year : 2018

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

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Gillian Rice
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Darragh Duffy

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 [...]

Dates and versions

pasteur-01962416 , version 1 (20-12-2018)

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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, 2018, pp.annrheumdis-2018-214037. ⟨10.1136/annrheumdis-2018-214037⟩. ⟨pasteur-01962416⟩
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