Characterization of peripheral blood T follicular helper (TFH) cells in patients with type 1 Gaucher disease and carriers

Uzen R., BAYRAM F., Dursun H., KARDAŞ F., Çakır M., Cucer N., ...More

Blood Cells, Molecules, and Diseases, vol.100, 2023 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 100
  • Publication Date: 2023
  • Doi Number: 10.1016/j.bcmd.2023.102728
  • Journal Name: Blood Cells, Molecules, and Diseases
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Keywords: Gaucher disease, IL-21, IL-4, TFH cells
  • Van Yüzüncü Yıl University Affiliated: Yes


© 2023 Elsevier Inc.Background: Gaucher disease (GD) is the most common autosomal recessive lipid storage disease. In this study, the changes in TFH cells and IL-4 and IL-21 cytokines in blood samples of GD patients, carriers and healthy volunteers were investigated. Methods: Two pretreatment type 1 GD patients, 20 currently treated type 1 GD patients, 6 carriers, and 27 healthy volunteers were enrolled in the study. TFH cell (CD45RA−CD4+CXCR5+) number, phenotype (PD1, ICOS expression), and cytokine production (IL-21, IL-4) were assessed via flow cytometric assays. Results: No significant differences were found between the groups with respect to the number, frequency and PD1 or ICOS expression of TFH cells between healthy controls, patients and carriers. However, IL-4+ TFH cells were significantly reduced both in percent and number in the treated GD patients compared with healthy controls (p < 0.05). Interestingly, the IL-21+ TFH cell number was increased in treated GD patients. When TFH cells were examined based on CXCR3 expression, the frequency of the PD1+Th17-Th2-like fraction (CXCR3−) was found to be significantly increased in treated GD patients. Conclusion: To our knowledge, this is the first study to assess TFH cells in GD patients, and to show that the production of IL-4 and IL-21 by TFH cells and their subsets may be altered in type 1 GD patients.