Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia

• Published in: Orphanet journal of rare diseases 2021-12, Vol.16 (1), p.511-511, Article 511
• Main Authors: Guilhem, Alexandre, Portalès, Pierre, Dupuis-Girod, Sophie, Rivière, Sophie, Vincent, Thierry
• Format: Article
• Language: English
• Subjects: Abscesses; Age; Anemia; Angiogenesis; Bacteria; Biochemistry, Molecular Biology; Blood transfusion; Blood transfusions; Bone marrow; CD26; Chemokine receptors; Chemokines; Chemotaxis; CXCL12 protein; CXCR4; CXCR4 protein; Cytotoxicity; Demographic aspects; Development and progression; Diagnosis; Dipeptidyl Peptidase 4; Dipeptidyl Peptidase 4 - metabolism; Dipeptidyl-peptidase IV; Endothelial Cells; Epistaxis; Genetic disorders; Genomics; Health aspects; Helper cells; Hemorrhage; Hereditary hemorrhagic telangiectasia; Homeostasis; Human health and pathology; Humans; Immunology; Infections; Intravenous administration; Iron; Killer Cells, Natural; Killer Cells, Natural - metabolism; Life Sciences; Lymphocytes; Lymphocytes T; Lymphopenia; Medical research; Mutation; Peptidase; Phenotypes; Physiological aspects; Rare diseases; Receptors, CXCR4; Sepsis; Susceptibility to infection; T-helper lymphocytes; T-Lymphocytes, Helper-Inducer; T-Lymphocytes, Helper-Inducer - metabolism; Telangiectasia, Hereditary Hemorrhagic; Telangiectasia, Hereditary Hemorrhagic - epidemiology
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-021-02139-y

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease characterized by a deregulated neo-angiogenesis. Besides a mainly vascular phenotype (muco-cutaneous telangiectases, arteriovenous malformations), a specific risk of infection is suggested by case series of severe and atypical infections as well as by reports of decreased T and natural killer (NK) lymphocyte counts. As some evidence supports a dysregulation of the CXCR4/CXCL12 chemotactic axis of HHT endothelial cells, we hypothesized that a similar phenomenon could occur on lymphocytes. Eighteen HHT patients with history of severe infection (HSI) were matched in age and sex with 18 HHT without HSI and 18 healthy control subjects (HC). We assessed the cell count and the surface expression of CXCR4 and CD26 (CXCL12 inactivating peptidase) of circulating T-helper and T-cytotoxic lymphocytes (including naive, memory and activated subsets) and NK cells. The overall HHT group of 36 patients exhibited a reduction of circulating T-helper lymphocytes compared to HC (median: 517 vs. 1026 cells/mm , p