Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

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 ab...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-05-01
Series:Frontiers in Immunology
Subjects:
SKIV2L
TTC37
syndromic diarrhea/trichohepatoenteric syndrome
immunodeficiency
memory B cells
NK cells
Online Access:http://journal.frontiersin.org/article/10.3389/fimmu.2018.01036/full

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http://journal.frontiersin.org/article/10.3389/fimmu.2018.01036/full

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