Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann - Pick type C and Sanfilippo diseases.

ABSTRACT: Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes. Lysosomes are key regulators of many different cellular processes and are vital for the function of the immune system. Several studies have shown the coexistence of LSDs and immune abnormalities. In this study, we investigated the presence of autoantibodies in the plasma of patients with Gaucher disease (GD; n = 6), Sanfilippo Syndrome B (SFB; n = 8) and Niemann - Pick type C disease (NPC; n = 5) before and following Miglustat treatment (n = 3). All were examined for antibodies to antigens of Hep-2 cells and antiganglioside antibodies (AGSA). No autoantibodies were detected

SUBMITTER: Dimitriou E 

PROVIDER: S-EPMC6554541 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature