Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease.

ABSTRACT: Gaucher disease (GD) is one of the most common lysosomal storage disorders. It is caused by bi-allelic mutations in the GBA1 gene responsible for the production of β-glucocerebrosidase, an enzyme responsible for the hydrolysis of the sphingolipid glucocerebroside. This results in its accumulation in various organs, and patients can present with a variety of symptoms ranging from visceral enlargement, bone pathology and hematological manifestations. Neuronopathic effects are seen in the severe form of the disease. GD patients also have an increased risk of B-cell malignancies. Some of the hematological symptoms of GD resemble those of the systemic hyperinflammatory condition, hemophagocytic lymphohistiocytosis (HLH). HLH can be familial, due to functional deficiencies in cytotoxic ly

SUBMITTER: Zou J 

PROVIDER: S-EPMC12571723 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature