Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

Heterozygous mutations in JAK1 which result in JAK-STAT hyperactivity have been implicated in an autosomal dominant disorder that features multi-organ immune dysregulation. This study identifies another previously unreported heterozygous missense JAK1 mutation, H596D, in an individual with a unique...

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Bibliographic Details
Main Authors: Takuya Takeichi, John Y. W. Lee, Yusuke Okuno, Yuki Miyasaka, Yuya Murase, Takenori Yoshikawa, Kana Tanahashi, Emi Nishida, Tatsuya Okamoto, Komei Ito, Yoshinao Muro, Kazumitsu Sugiura, Tamio Ohno, John A. McGrath, Masashi Akiyama
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-01-01
Series:Frontiers in Immunology
Subjects:
inflammation
brain
liver
skin
STAT
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.737747/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2021.737747/full

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