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Journal of Immunology Research
Volume 2015, Article ID 192761, 6 pages
http://dx.doi.org/10.1155/2015/192761
Review Article

Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System

IIFP, Departamento de Ciencias Biológicas, Facultad de Ciencias Exactas, Universidad Nacional de La Plata y CONICET, 47 y 115, 1900 La Plata, Argentina

Received 8 October 2014; Revised 9 January 2015; Accepted 11 January 2015

Academic Editor: Giacomina Brunetti

Copyright © 2015 Juan Marcos Mucci and Paula Rozenfeld. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macrophage lineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bone metabolism and structure and patients suffer from bone pain and crisis. Skeletal problems include osteopenia, osteoporosis, osteolytic lesions, and osteonecrosis. On the other hand a chronic stimulation of the immune system is a well-accepted hallmark in this disease. In this review we summarize the latest findings in the mechanisms leading to the bone pathology in Gaucher disease in relationship with the proinflammatory state.