INVESTIGADORES
DE FRANCESCO Pablo Nicolas
congresos y reuniones científicas
Título:
Flow cytometric study of leukocytes and cell markers from Fabry disease patients
Autor/es:
ROZENFELD P; AGRIELLO E; MARTINEZ P; DE FRANCESCO N; KISINOVSKY I; FOSSATI C
Lugar:
San Diego, USA
Reunión:
Congreso; 57th Annual Meeting of the American Society of Human Genetics; 2007
Institución organizadora:
American Society of Human Genetics
Resumen:
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 Vα24-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 Vα24+ 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.