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Article Abstract

Tricohepatoenteric syndrome is a rare genetic disorder caused by mutations in or . An upregulation of type 1 interferon signaling is associated with the 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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158382PMC
http://dx.doi.org/10.1097/PG9.0000000000000264DOI Listing

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Tricohepatoenteric syndrome is a rare genetic disorder caused by mutations in or . An upregulation of type 1 interferon signaling is associated with the 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.

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A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

Orphanet J Rare Dis

May 2013

Department of Medical and Molecular Genetics and Centre for Rare Diseases and Personalised Medicine, University of Birmingham School of Medicine, Birmingham, UK.

Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the essential pathways have a well understood function, such as bile biosynthesis and transport, the role of the others is not known. Here we report the findings of a clinical, biochemical and molecular study of a family with three patients affected with a severe infantile cholestatic disease.

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