Analysis of peripheral blood leukocyte subpopulations and cell markers from Fabry disease patients

ROZENFELD P,; MARTINEZ P,; AGRIELO E,; DE FRANCESCO PN,; AGGIO M,; KISINOVSKY I,; CARLOS ALBERTO FOSSATI

Roma

Congreso; 7th. International Symposium on Lysosomal Storage Diseases; 2007

There is much evidence linking glycolipids with the immune system. However, studies of immune cells and molecules in glycolipidosis are scarce, specially in Fabry disease. Aims: To analyze whether the disorder of glycolipid catabolism in Fabry patients is associated with changes in leukocyte subpopulations and their cell markers. Methods/Patients: nine Fabry patients were included in the study, 4 pediatric (median age=10 years) and 5 adults (median age=43 years). Four of the patients were on ERT with agalsidase alfa. Whole peripheral blood samples from Fabry patients and 3 normal controls were used for flow cytometric analysis, using the following monoclonal antibodies: CD4-FITC, CD8-PE, CD3-PerCP, CD56+16-PE, CD19-PerCP, Lin1-FITC, CD14-FITC, CD31-PE, CD1d-PE, TCR VĄ24-FITC, CD77-FITC (intracellular staining). Results: The percentages of T and B lymphocytes were within the normal range. A significantly reduced percentage of NK (p=0.0005) and dendritic cells (p= 0.038) was observed, as compared to controls. ERT treated patients showed a higher level of VĄ24+ cells compared to non treated Fabry patients (p=0.049) and controls (p=0.045). CD31 expression was lower in granulocytes, monocytes and lymphocytes, being statistically significant in the latter population (p= 0.0058). However, no difference was observed in CD38 expression in any subpopulation. Cell surface expression of CD1d showed lower levels in Fabry patients when compared to the control group (p<0.001). On the contrary, HLA-DR expression was elevated (p= 0.01). Intracellular content of Gb3/CD77 was also analyzed and increased amounts of Gb3 was detected in monocytes (p=0.001), lymphocytes (p= 0.02) and granulocytes (p=0.033). Conclusions: These results suggest that glycolipid disorders may cause changes in leukocyte populations and in expression of cell markers.