Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea

Hosking, Laine M; Bannister, Elizabeth G; Cook, Matthew; Choo, Sharon; Kumble, Smitha; Cole, Theresa S

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Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea

Date

2018

Authors

Hosking, Laine M

Bannister, Elizabeth G

Cook, Matthew

Choo, Sharon

Kumble, Smitha

Cole, Theresa S

Publisher

Kluwer Academic/Plenum Publishers

Abstract

To the Editor, We present the first described case of trichohepatoenteric syndrome (THES) caused by a homozygous mutation in SKIV2L (THES2; OMIM #614602), presenting with Pneumocystis jirovicii pneumonia (PJP) and postnatally acquired cytomegalovirus (CMV) infection.

URI

http://hdl.handle.net/1885/256655

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ANU Research Publications

Source

Journal of Clinical Immunology

Type

Journal article

DOI

10.1007/s10875-017-0460-0

Restricted until

2099-12-31

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Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea

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