Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

Autoinflammatory disease can result from monogenic errors of immunity. We describe a patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of-function mutation (S703I) in JAK1, encoding a kinase essential for signaling downstream of >25 cytokines. By custom singl...

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Detalles Bibliográficos
Autores principales: Gruber, Conor N., Calis, Jorg J.A., Buta, Sofija, Evrony, Gilad, Martin, Jerome C., Uhl, Skyler A., Caron, Rachel, Jarchin, Lauren, Dunkin, David, Phelps, Robert, Webb, Bryn D., Saland, Jeffrey M., Merad, Miriam, Orange, Jordan S., Mace, Emily M., Rosenberg, Brad R., Gelb, Bruce D., Bogunovic, Dusan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Inc. 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398039/
https://www.ncbi.nlm.nih.gov/pubmed/32750333
http://dx.doi.org/10.1016/j.immuni.2020.07.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398039/
https://www.ncbi.nlm.nih.gov/pubmed/32750333
http://dx.doi.org/10.1016/j.immuni.2020.07.006

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