Title |
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
|
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Published in |
Frontiers in immunology, May 2018
|
DOI | 10.3389/fimmu.2018.01036 |
Pubmed ID | |
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 |
Abstract |
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-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 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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Geographical breakdown
Country | Count | As % |
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France | 1 | 25% |
Unknown | 3 | 75% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 42 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 8 | 19% |
Student > Postgraduate | 7 | 17% |
Other | 5 | 12% |
Student > Ph. D. Student | 3 | 7% |
Student > Bachelor | 2 | 5% |
Other | 5 | 12% |
Unknown | 12 | 29% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 13 | 31% |
Nursing and Health Professions | 4 | 10% |
Immunology and Microbiology | 4 | 10% |
Biochemistry, Genetics and Molecular Biology | 3 | 7% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
Other | 2 | 5% |
Unknown | 15 | 36% |