Parental Consanguinity is Associated with a Severe Phenotype in Common Variable Immunodeficiency
| Autor: | Claire, Rivoisy, Laurence, Gérard, David, Boutboul, Marion, Malphettes, Claire, Fieschi, Isabelle, Durieu, François, Tron, Agathe, Masseau, Pierre, Bordigoni, Laurent, Alric, Julien, Haroche, Cyrille, Hoarau, Alice, Bérézné, Maryvonnick, Carmagnat, Gael, Mouillot, Eric, Oksenhendler, L, Gérard |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
CD4-Positive T-Lymphocytes Male Pediatrics medicine.medical_specialty Adolescent Genotype Immunology Population Consanguinity CD8-Positive T-Lymphocytes Gastroenterology Young Adult Internal medicine medicine Humans Immunology and Allergy Genetic Testing Young adult Child education Genetic Association Studies Genetic testing education.field_of_study Bronchiectasis medicine.diagnostic_test business.industry Common variable immunodeficiency Incidence (epidemiology) Middle Aged medicine.disease Common Variable Immunodeficiency Phenotype Female France business CD8 |
| Zdroj: | Journal of Clinical Immunology. 32:98-105 |
| ISSN: | 1573-2592 0271-9142 |
| DOI: | 10.1007/s10875-011-9604-9 |
| Popis: | The DEFI study has collected clinical data and biological specimens from kindreds with CVID. Patients with demonstrated parental consanguinity (cCVID group) were compared to patients without parental consanguinity (ncCVID). A total of 24 of the 436 patients with CVID had consanguineous parents. Age at first symptoms and age at diagnosis were comparable in the two groups. Some complications were more frequent in cCVID patients: splenomegaly (62.5% vs. 29%; p = 0.001), granulomatous disease (29% vs. 12%; p = 0.02), and bronchiectasis (58% vs. 29%; p = 0.003). A high incidence of opportunistic infections was also observed in this population (29% vs. 5%; p < 0.001). Distribution of B-cell subsets were similar in the two groups. Naive CD4+ T cells were decreased in cCVID patients (15% vs. 28%; p < 0.001), while activated CD4 + CD95+ (88% vs. 74%; p = 0.002) and CD8 + HLA-DR + T cells (47% vs. 31%; p < 0.001) were increased in these patients when compared to ncCVID patients. Parental consanguinity is associated with an increased risk of developing severe clinical complications in patients with CVID. Most of these patients presented with severe T-cell abnormalities and should be considered with a diagnosis of late-onset combined immune deficiency (LOCID). Systematic investigation for parental consanguinity in patients with CVID provides useful information for specific clinical care and genetic screening. |
| Databáze: | OpenAIRE |
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