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

Jonathan Talbot, Anthony E Wiskin, Marie Monaghan, Anu Goenka, Gillian Rice, Marion Roderick

Research output: Contribution to journalArticlepeer-review

Abstract

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 reduced the symptoms of enteritis by blocking the inflammogenic effects of type 1 interferonopathy in a case of tricohepatoenteric syndrome diagnosed in a 5-year-old boy.

Original languageEnglish
Pages (from-to)e264
JournalJPGN reports
Volume3
Issue number4
DOIs
Publication statusPublished - Nov 2022

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