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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

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

Publikováno v: Frontiers in Immunology, Vol 9 (2018)

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 fea

Externí odkaz: https://doaj.org/article/4b0348c0cc8f40c79f85702eb1cd6563

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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Autor: 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

Publikováno v: Frontiers in Immunology
Frontiers in Immunology, Frontiers, 2018, 9, ⟨10.3389/fimmu.2018.01036⟩
Frontiers in Immunology, 2018, 9, ⟨10.3389/fimmu.2018.01036⟩
Frontiers in Immunology (9), . (2018)

International audience; 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 d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::856af559b3039b3ba37d1f7c990e07fe
https://hal-amu.archives-ouvertes.fr/hal-02000323

Syndromic diarrhea/Tricho-hepato-enteric syndrome

Autor: Fabre Alexandre, Martinez-Vinson Christine, Goulet Olivier, Badens Catherine

Publikováno v: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 5 (2013)

Abstract Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 bir

Externí odkaz: https://doaj.org/article/2d7e52f833de43d781edfa6dac882e06