Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome - INRAE - Institut national de recherche pour l’agriculture, l’alimentation et l’environnement Access content directly
Journal Articles Frontiers in Immunology Year : 2018

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Emmanuelle Dugelay
  • Function : Author
Ariane Perry
  • Function : Author


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 with a hypogammaglobulinemia leading to an immunoglobulin supplementation. Our immune evaluation of a large French cohort of SD/THE patient revealed several immunological defects. First, switched memory B lymphocytes count is very low. Second, IFN-gamma production by T and NK cells is impaired and associated with a reduced degranulation of NK cells. Third, T cell proliferation was abnormal in 3/6 TTC37-mutated patients. These three patients present with severe EBV infection and a transient hemophagocytosis which may be related to these immunological defects. Moreover, an immunological screening of patients with clinical features of SD/THE could facilitate both diagnosis and therapeutic management of these patients.
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Dates and versions

hal-02000323 , version 1 (21-02-2019)





Frederic Vely, Vincent Barlogis, Evelyne Marinier, Marie-Edith Coste, Beatrice Dubern, et al.. Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome. Frontiers in Immunology, 2018, 9, ⟨10.3389/fimmu.2018.01036⟩. ⟨hal-02000323⟩
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