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Janus Kinase Inhibition in the Aicardi–Goutières Syndrome

by Keller, Stephanie R , McDonald, Katherine , Takanohashi, Asako , Woidill, Sarah , Lebon, Pierre , Gavazzi, Francesco , Yum, Sabrina W , Dubbs, Holly , Frank, David B , Vanderver, Adeline , Rhee, Jullie , Kramer-Golinkoff, Julia , Koh, Jamie , Shults, Justine , Armangue, Thais , Ulrick, Nicole , Sherbini, Omar , Boyle, Katherine , Adang, Laura , Meritet, Jean-François , Peer, Kyle , Besnier, Constance , Helman, Guy , Pizzino, Amy , Collins, Abigail , Scher, Carly , Jaffe, Nicole

in Age / Central nervous system / Genes / Hereditary diseases / Immune system / Infections / Interferon / Janus kinase / Neurodevelopmental disorders / Patients / Skin

2020

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Janus Kinase Inhibition in the Aicardi–Goutières Syndrome

in Age / Central nervous system / Genes / Hereditary diseases / Immune system / Infections / Interferon / Janus kinase / Neurodevelopmental disorders / Patients / Skin

2020

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Janus Kinase Inhibition in the Aicardi–Goutières Syndrome

in Age / Central nervous system / Genes / Hereditary diseases / Immune system / Infections / Interferon / Janus kinase / Neurodevelopmental disorders / Patients / Skin

2020

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Journal Article

Janus Kinase Inhibition in the Aicardi–Goutières Syndrome

Keller, Stephanie R,

McDonald, Katherine,

Takanohashi, Asako,

Woidill, Sarah,

Lebon, Pierre,

Gavazzi, Francesco,

Yum, Sabrina W,

Dubbs, Holly,

Frank, David B,

Vanderver, Adeline,

Rhee, Jullie,

Kramer-Golinkoff, Julia,

Koh, Jamie,

Shults, Justine,

Armangue, Thais,

Ulrick, Nicole,

Sherbini, Omar,

Boyle, Katherine,

Adang, Laura,

Meritet, Jean-François,

Peer, Kyle,

Besnier, Constance,

Helman, Guy,

Pizzino, Amy,

Collins, Abigail,

Scher, Carly,

Jaffe, Nicole

2020

Overview

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.

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Publisher

Massachusetts Medical Society

Subject

Age

/ Central nervous system

/ Genes

/ Hereditary diseases

/ Immune system

/ Infections

/ Interferon