Immunological abnormalities associated with hereditary haemorrhagic telangiectasia
| Autor: | H. Plauchu, A. Guilhem, C. Malcus, Sophie Dupuis-Girod, B. Clarivet |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Adult
CD4-Positive T-Lymphocytes Male CD8-Positive T-Lymphocytes Young Adult Risk Factors Hypergammaglobulinemia Lymphopenia Internal Medicine medicine Humans Prospective Studies Aged Aged 80 and over Innate immune system biology business.industry Monocyte Genetic disorder Middle Aged Endoglin medicine.disease Acquired immune system Immunity Innate Immunoglobulin A medicine.anatomical_structure Immunoglobulin M Immunoglobulin G Immunology biology.protein Female Telangiectasia Hereditary Hemorrhagic Antibody business CD8 |
| Zdroj: | Journal of Internal Medicine. 274:351-362 |
| ISSN: | 1365-2796 0954-6820 |
| DOI: | 10.1111/joim.12098 |
| Popis: | Objective Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder related to mutations in one of the coreceptors to the transforming growth factor-β superfamily (ALK1 or endoglin). Besides the obvious vascular symptoms (epistaxis and arteriovenous malformations), patients have an unexplained high risk of severe bacterial infections. The aim of the study was to assess the main immunological functions of patients with HHT using the standard biological tests for primary immunodeficiencies. Design, setting and subjects A prospective single-centre study of 42 consecutive adult patients with an established diagnosis of HHT was conducted at the National French HHT Reference Center (Lyon). Lymphocyte subpopulations and proliferation capacity, immunoglobulin levels and neutrophil and monocyte phagocytosis, oxidative burst and chemotaxis were assessed. Results Innate immunity was not altered in patients with HHT. With regard to adaptive immunity, significant changes were seen in immunological parameters: primarily, a lymphopenia in patients with HHT compared with healthy control subjects affecting mean CD4 (642 cells μL−1 vs. 832 cells μL−1, P |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text