Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.
Front Immunol
; 9: 1036, 2018.
Article
en En
| MEDLINE
| ID: mdl-29868001
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
3_ND
Problema de salud:
3_diarrhea
/
3_neglected_diseases
Asunto principal:
Linfocitos B
/
Células Asesinas Naturales
/
Diarrea Infantil
/
Enfermedades del Cabello
/
Síndromes de Inmunodeficiencia
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Front Immunol
Año:
2018
Tipo del documento:
Article
País de afiliación:
Francia