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: Takeichi, Takuya, Lee, John Y. W., Okuno, Yusuke, Miyasaka, Yuki, Murase, Yuya, Yoshikawa, Takenori, Tanahashi, Kana, Nishida, Emi, Okamoto, Tatsuya, Ito, Komei, Muro, Yoshinao, Sugiura, Kazumitsu, Ohno, Tamio, McGrath, John A., Akiyama, Masashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761858/
https://www.ncbi.nlm.nih.gov/pubmed/35046931
http://dx.doi.org/10.3389/fimmu.2021.737747

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