Immunoglobulin abnormalities and effects of enzyme replacement therapy in children with Gaucher disease

Abstract

Hyperimmunoglobulinemia is documented in patients with Gaucher disease of all ages. We investigated the frequency of hyperimmunoglobulinemia in 12 pediatric patients with type I and III Gaucher disease and the effects of enzyme replacement therapy on these abnormalities. The incidence of hyperimmunoglobulinemia was 77%, 66%, and 60% at the diagnosis, before and after ERT, respectively. Immunoglobulin G abnormalities were the most commonly seen isotype abnormality. After enzyme replacement therapy normalization of IgA and IgM levels were recorded but decline in IgG levels was less likely to occur. This study indicated the higher frequency of hyperimmunoglobulinemia in pediatric Gaucher patients.

Diagnostic Utility of Plasma Chitotriosidase, Total Acid Phosphatase Activity, Ferritin and Globulin Levels in Screening for Gaucher Disease

“…Plasma protein electrophoresis in the present study revealed polyclonal hypergammaglobulinemia among GD patients, although monoclonal or biclonal gammopathies are more specific to Gaucher disease as polyclonal gammopathies may have multiple etiologies, but not assessed in the present study. In agreement with these findings a study done by Arıkan-Ayyıldız et al [21] on pediatric patients with GD found that hyperimmunoglobulinemia was present in 77% at diagnosis. Explanations on the pathogenesis of immunoglobulin disorders in GD have mainly focused on the accumulated glucocerebroside as the principle agent for chronic stimulation of macrophages surrounding Gaucher cells.…”

Immunological Cells and Functions in Gaucher Disease

“…162,164,165,168 However, the effects of these interventions on the reduction of specific subsets of B cells (IgM high IgD low CD23 − CD11b + CD43 + CD5 + B1a,IgM high IgD lo w ,CD11b + CD5 − B1b, and B220 high CD19 high B2 cells) need investigation. Also, the antigens for several autoantibodies in sera of patients with Gaucher disease have been characterized as pyruvate dehydrogenease, DNA, sulfatide, and rheumatoid factor.…”

Examining the impact of bone pathology on type I Gaucher disease

“…Abnormalities associated with B-cell compromise were detected, such as IgG and IgM hypergammaglobulinemia and plasmacytosis [53]. ERT treatment lowers IgG and IgM levels [54,55]. An increased incidence of gammopathies and multiple myeloma has been reported, implying interplay between Gaucher cells and the immune system [56].…”