Uzen, RamazanBayram, FahriDursun, HuseyinKardas, FatihCakir, MustafaCucer, NurhanDonmez-Altuntas, Hamiyet2025-05-102025-05-1020231079-97961096-096110.1016/j.bcmd.2023.1027282-s2.0-85147822834https://doi.org/10.1016/j.bcmd.2023.102728https://hdl.handle.net/20.500.14720/10546Donmez Altuntas, Hamiyet/0000-0001-6473-5813; Dursun, Huseyin/0000-0003-4340-0883; Eken, Ahmet/0000-0002-5816-0686; Uzen, Ramazan/0000-0002-2208-1361Background: 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.eninfo:eu-repo/semantics/closedAccessGaucher DiseaseTfh CellsIl-4Il-21Article100Q4Q336738539WOS:001002829600001