Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease

PLoS One. 2016 Dec 12;11(12):e0168135. doi: 10.1371/journal.pone.0168135. eCollection 2016.

Abstract

Gaucher disease (GD) patients often present with abnormalities in immune response that may be the result of alterations in cellular and/or humoral immunity. However, how the treatment and clinical features of patients impact the perturbation of their immunological status remains unclear. To address this, we assessed the immune profile of 26 GD patients who were part of an enzyme replacement therapy (ERT) study. Patients were evaluated clinically for onset of GD symptoms, duration of therapy and validated outcome measures for ERT. According to DS3 disease severity scoring system criteria, they were assigned to have mild, moderate or severe GD. Flow cytometry based immunophenotyping was performed to analyze subsets of T, B, NK, NKT and dendritic cells. GD patients showed multiple types of immune abnormalities associated to T and B lymphocytes with respect to their subpopulations as well as memory and activation markers. Skewing of CD4 and CD8 T cell numbers resulting in lower CD4/CD8 ratio and an increase in overall T cell activation were observed. A decrease in the overall B cells and an increase in NK and NKT cells were noted in the GD patients compared to controls. These immune alterations do not correlate with GD clinical type or level of biomarkers. However, subjects with persistent immune alterations, especially in B cells and DCs correlate with longer delay in initiation of ERT (ΔTX). Thus, while ERT may reverse some of these immune abnormalities, the immune cell alterations become persistent if therapy is further delayed. These findings have important implications in understanding the immune disruptions before and after treatment of GD patients.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Enzyme Replacement Therapy*
  • Female
  • Flow Cytometry
  • Gaucher Disease / immunology*
  • Gaucher Disease / physiopathology
  • Gaucher Disease / therapy*
  • Humans
  • Lymphocyte Activation
  • Lymphocyte Count
  • Male
  • Middle Aged
  • Time-to-Treatment*
  • Treatment Outcome
  • Young Adult

Grants and funding

Amerimmune, O & O Alpan, LLC provided support in the form of salaries to authors [RPL, MP, MR, LA and OA], but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the ‘author contributions’ section.