Details

Autor(en) / Beteiligte

• 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

Titel

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Ist Teil von

• Frontiers in immunology, 2018-05, Vol.9, p.1036-1036

Ort / Verlag

Switzerland: Frontiers

Erscheinungsjahr

2018

Quelle

EZB-FREE-00999 freely available EZB journals

Beschreibungen/Notizen

• The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in or in , 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-γ 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 -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.