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

Coralie Briand (1, 2, 3) , Marie-Louise Frémond (4, 1, 2, 3, 5, 6) , Didier Bessis (7) , Aurélia Carbasse (7) , Gillian Rice (8) , Vincent Bondet (9) , Darragh Duffy (9) , Lucienne Chatenoud (10, 5, 6, 1) , Stephane Blanche (1, 5, 3, 6) , Yanick Crow (11, 5, 6) , Bénédicte Neven (1, 3, 5, 6)

1 CHU Necker - Enfants Malades [AP-HP]
2 AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP)
3 Service d'immuno-hématologie pédiatrique [CHU Necker]
4 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
5 UPD5 - Université Paris Descartes - Paris 5
6 USPC - Université Sorbonne Paris Cité
7 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
8 University of Manchester [Manchester]
9 Immunobiologie des Cellules dendritiques
10 INEM - UM 111 (UMR 8253 / U1151) - Institut Necker Enfants-Malades
11 University of Edinburgh

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 [...]

Keywords: inflammation; rehabilitation; treatment

Domains: Immunology

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⟩