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Article

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.

Frontiers in immunology - 1 Jan 2018

Vély Frédéric, Barlogis Vincent, Marinier Evelyne, Coste Marie-Edith, Dubern Béatrice, Dugelay Emmanuelle, Lemale Julie, Martinez-Vinson Christine, Peretti Noël, Perry Ariane, Bourgeois Patrice, Badens Catherine, Goulet Olivier, Hugot Jean-Pierre, Farnarier Catherine, Fabre Alexandre

Abstract excerpt

The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI complex involved in RNA degradation. The main features are intractable diarrhea of infancy, hair abnormalities, facial dysmorphism, and intrauterine growth restriction. Immunologically this syndrome is associated...

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Source

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Identifiers

PMID: 29868001
DOI: 10.3389/fimmu.2018.01036
PMCID: PMC5958188

Genes

SKI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.PMID 29868001Read ↗

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Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.Semantic proximity Read ↗

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.Semantic proximity Read ↗

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.Semantic proximity Read ↗

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.Semantic proximity Read ↗

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.Semantic proximity Read ↗

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Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.Semantic proximity Read ↗

Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.Semantic proximity Read ↗

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