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Journal of Clinical Immunology

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01-01-2018 | Letter to Editor

Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea

Authors: Laine M. Hosking, Elizabeth G. Bannister, Matthew C. Cook, Sharon Choo, Smitha Kumble, Theresa S. Cole

Published in: Journal of Clinical Immunology | Issue 1/2018

Excerpt

To the Editor, …

Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012;90:689–92.CrossRefPubMedPubMedCentral

Fabre A, Martinez-Vinson C, Goulet O, Badens C. Syndromic diarrhea/Tricho-hepato-enteric syndrome. Orphanet J Rare Dis. 2013;8:5.CrossRefPubMedPubMedCentral

Stankler L, Lloyd D, Pollitt RJ, Gray ES, Thom H, Russell G. Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. Arch Dis Child. 1982;57:212–6.CrossRefPubMedPubMedCentral

Monies DM, Rahbeeni Z, Abouelhoda M, Naim EA, Al-Younes B, Meyer BF, et al. Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome. J Pediatr Gastr Nutr. 2015;60:352–6.CrossRef

Fabre A, Breton A, Coste ME, Colomb V, Dubern B, Lachaux A, et al. Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome. Arch Dis Child. 2014;99:35–8.CrossRefPubMed

Eckard SC, Rice GI, Fabre A, Badens C, Gray EE, Hartley JL, et al. The SKIV2L RNA exosome limits activation of the RIG-I-like receptors. Nat Immunol. 2014;15:839–45.CrossRefPubMedPubMedCentral

Rider NL, Boisson B, Jyonouchi S, Hanson EP, Rosenzweig SD, Casanova JL, et al. Novel TTC37 mutations in a patient with immunodeficiency without diarrhea: extending the phenotype of trichohepatoenteric syndrome. Front Pediatr. 2015;3:2.PubMedPubMedCentral

Title: Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea
Authors: Laine M. Hosking
Elizabeth G. Bannister
Matthew C. Cook
Sharon Choo
Smitha Kumble
Theresa S. Cole
Publication date: 01-01-2018
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 1/2018
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-017-0460-0

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