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Case Reports
. 2022 Oct 20;3(4):e264.
doi: 10.1097/PG9.0000000000000264. eCollection 2022 Nov.

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

Jonathan Talbot  1 , Anthony E Wiskin  2 , Marie Monaghan  3 , Anu Goenka  1   3 , Gillian Rice  4 , Marion Roderick  3
Affiliations
Case Reports

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

Jonathan Talbot et al. JPGN Rep. .

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.

Keywords: genetics; immunology; tricohepatoenteric syndrome; type 1 interferonopathy.

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Conflict of interest statement

The authors report no conflicts of interest.

References

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