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Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease
Jinyun Zou1,2, Tahereh Noori1, Mark Walterfang3,4,5
1Killer Cell Biology Laboratory, Cancer Immunology Program, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Frontiers in Immunology
|November 3, 2025
Summary
Gaucher disease (GD) does not impair cytotoxic T lymphocytes or natural killer cells. This finding suggests GD patients with hematological cancers can safely receive autologous immunotherapy.
Area of Science:
- Biochemistry
- Immunology
- Genetics
Background:
- Gaucher disease (GD) is a common lysosomal storage disorder caused by GBA1 gene mutations, leading to glucocerebroside accumulation.
- GD symptoms include organomegaly, bone issues, and hematological problems, with neuronopathic effects in severe cases.
- GD patients have increased B-cell malignancy risk, and some symptoms overlap with hemophagocytic lymphohistiocytosis (HLH).
Purpose of the Study:
- To investigate if abnormal lipid accumulation in Gaucher disease affects cytotoxic lymphocyte function.
- To determine if GD patient cytotoxic cells and cells with inhibited glucocerebrosidase activity have impaired cytotoxicity.
Main Methods:
- Analysis of primary cytotoxic T lymphocytes and natural killer cells from GD patients.
- Assessment of cytotoxicity in cells with irreversibly inhibited glucocerebrosidase activity.
Main Results:
- Cytotoxic T lymphocytes and natural killer cells from GD patients showed no impairment in their activity.
- Cells with irreversibly inhibited glucocerebrosidase activity also maintained normal cytotoxicity.
Conclusions:
- Lipid accumulation in Gaucher disease does not affect the cytotoxicity of primary T lymphocytes and NK cells.
- This finding supports the use of autologous immunotherapy for Gaucher disease patients who develop hematological cancers.
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