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

doi:10.1097/PG9.0000000000000264

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 journal › Article (Academic Journal) › peer-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 language	English
Journal	JPGN Reports
Volume	3
Issue number	4
DOIs	https://doi.org/10.1097/PG9.0000000000000264
Publication status	Published - 2022

Keywords

immunology
genetics
tricohepatoenteric syndrome
type 1 interferonopathy

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10.1097/PG9.0000000000000264

https://journals.lww.com/jpgnr/Fulltext/2022/11000/Management_of_Enteritis_Associated_With.11.aspx

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

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 = "immunology, genetics, tricohepatoenteric syndrome, type 1 interferonopathy",

author = "Jonathan Talbot and Wiskin, \{Anthony E.\} and Marie Monaghan and Anu Goenka and Gillian Rice and Marion Roderick",

year = "2022",

doi = "10.1097/PG9.0000000000000264",

language = "English",

volume = "3",

journal = "JPGN Reports",

issn = "2691-171X",

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TY - JOUR

T1 - Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine

AU - Talbot, Jonathan

AU - Wiskin, Anthony E.

AU - Monaghan, Marie

AU - Goenka, Anu

AU - Rice, Gillian

AU - Roderick, Marion

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

KW - immunology

KW - genetics

KW - tricohepatoenteric syndrome

KW - type 1 interferonopathy

U2 - 10.1097/PG9.0000000000000264

DO - 10.1097/PG9.0000000000000264

M3 - Article (Academic Journal)

C2 - 37168478

SN - 2691-171X

VL - 3

JO - JPGN Reports

JF - JPGN Reports

IS - 4

ER -

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

Abstract

Keywords

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