Gaucher disease (GD) is the most prevalent
lysosomal storage disorder. Gaucher disease is associated
with remarkable alterations in the immune system, and GD
patients are more susceptible to infections and are at a
higher risk of developing autoimmune disorders and
malignancies. In a case–control study, we used three-color
flow cytometric immunophenotyping for determination of
the frequency of lymphocyte subpopulations and activated
T lymphocytes among 18 children with GD1 under enzyme
replacement therapy managed in Assiut University Hospitals.
We found significant increases in the frequencies of
total lymphocytes, CD19?, CD3?, CD4?, and CD8? in
children with GD1 when compared to healthy control. The
frequencies of activated T lymphocytes (CD3?HLA-DR?),
activated T-helper cells (CD4?HLA-DR?), and activated
T-suppressor/cytotoxic cells (CD8?HLA-DR?) were significantly
higher in GD1 as compared to healthy children.
Our data show that the increased proportion of activated T
lymphocytes in children with GD1 raises the issue of their
possible involvement in the pathogenesis of the immune
dysfunction seen in these patients. Our data suggested that
the activated T lymphocytes could play a role in the clinical
course of GD1. The relationship of these cells to
immune disorders in GD1 children remains to be
determined.