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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Detalles Bibliográficos
Autores principales: 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
Formato: Artículo
Lenguaje:English
Publicado: Frontiers Media S.A. 2022-01-01
Colección:Frontiers in Immunology
Materias:
inflammation
brain
liver
skin
STAT
Acceso en línea: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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