Janus Kinase Inhibition in the Aicardi–Goutières Syndrome

Patients with the Aicardi–Goutières syndrome, an autosomal recessive disorder that affects the central nervous system, immune system, and skin, have severe neurodevelopmental abnormalities and abnormal signaling in the interferon pathway. In patients in this study, Janus kinase inhibition decreased...

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Bibliographic Details
Published in:	The New England journal of medicine Vol. 383; no. 10; pp. 986 - 989
Main Authors:	Vanderver, Adeline, Adang, Laura, Gavazzi, Francesco, McDonald, Katherine, Helman, Guy, Frank, David B, Jaffe, Nicole, Yum, Sabrina W, Collins, Abigail, Keller, Stephanie R, Lebon, Pierre, Meritet, Jean-François, Rhee, Jullie, Takanohashi, Asako, Armangue, Thais, Ulrick, Nicole, Sherbini, Omar, Koh, Jamie, Peer, Kyle, Besnier, Constance, Scher, Carly, Boyle, Katherine, Dubbs, Holly, Kramer-Golinkoff, Julia, Pizzino, Amy, Woidill, Sarah, Shults, Justine
Format:	Journal Article
Language:	English
Published:	Boston Massachusetts Medical Society 03-09-2020
Subjects:	Age Central nervous system Genes Hereditary diseases Immune system Infections Interferon Janus kinase Neurodevelopmental disorders Patients Skin
Online Access:	Get full text
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Summary:	Patients with the Aicardi–Goutières syndrome, an autosomal recessive disorder that affects the central nervous system, immune system, and skin, have severe neurodevelopmental abnormalities and abnormal signaling in the interferon pathway. In patients in this study, Janus kinase inhibition decreased skin manifestations and improved neurologic function.
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMc2001362