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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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:
Case Report
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
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author Talbot, Jonathan
Wiskin, Anthony E.
Monaghan, Marie
Goenka, Anu
Rice, Gillian
Roderick, Marion
author_facet Talbot, Jonathan
Wiskin, Anthony E.
Monaghan, Marie
Goenka, Anu
Rice, Gillian
Roderick, Marion
author_sort Talbot, Jonathan
collection PubMed
description 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.
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spelling pubmed-101583822023-05-09 Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine Talbot, Jonathan Wiskin, Anthony E. Monaghan, Marie Goenka, Anu Rice, Gillian Roderick, Marion JPGN Rep Case Report 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. Lippincott Williams & Wilkins, Inc. 2022-10-20 /pmc/articles/PMC10158382/ /pubmed/37168478 http://dx.doi.org/10.1097/PG9.0000000000000264 Text en Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Talbot, Jonathan
Wiskin, Anthony E.
Monaghan, Marie
Goenka, Anu
Rice, Gillian
Roderick, Marion
Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine
title Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine
title_full Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine
title_fullStr Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine
title_full_unstemmed Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine
title_short Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine
title_sort management of enteritis associated with tricohepatoenteric syndrome due to skiv2l mutation using the combination of jak1/2 inhibition and azathioprine
topic Case Report
url 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
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