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Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine

Tricohepatoenteric syndrome is a rare genetic disorder caused by mutations in SKIV2L or TTC37. An upregulation of type 1 interferon signaling is associated with the SKIV2L variation. Introduction of Baricitinib as a JAK1/ 2 kinase inhibitor alongside traditional immunosuppressive agents successfully...

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Detalles Bibliográficos
Autores principales: Talbot, Jonathan, Wiskin, Anthony E., Monaghan, Marie, Goenka, Anu, Rice, Gillian, Roderick, Marion
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158382/
https://www.ncbi.nlm.nih.gov/pubmed/37168478
http://dx.doi.org/10.1097/PG9.0000000000000264