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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Published inThe 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
LanguageEnglish
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
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ISSN0028-4793
1533-4406
DOI10.1056/NEJMc2001362

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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.
Bibliography:SourceType-Scholarly Journals-1
ObjectType-Correspondence-1
content type line 14
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMc2001362