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Cytokines in gaucher disease : role in the pathogenesis of bone and pulmonary disease
Author
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 16, Issue 3 (30 Sep. 2015), pp.207-213, 7 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2015-09-30
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Topics
Abstract EN
Gaucher disease (GD) is the most frequently encountered lysosomal storage disease caused by inborn defects of themembrane-bound lysosomal enzyme, acid b-glucosidase or glucocerebrosidase.
This defective activity causes an accumulation of glucocerebroside (glucosylceramide) in the lysosomes of cells derived from the monocyte/macrophage lineage.
Glucocerebroside-engorged cells, termed Gaucher cells, infiltrate various organs, leading to multisystemic abnormalities.
The mechanisms by which systemic and organ-specific involvement is propagated or initiated remain unclear.
Studies are increasingly recognizing the role of immune dysregulation and inflammation in the pathogenesis of Gaucher disease.
Many cytokines have been reported as mediators of tissue damage in Gaucher disease.
Bone and lung disease are serious causes of morbidity in non neuronopathic Gaucher disease.
The progress in the understanding of the pathogenesis or relevant mechanism(s) of Gaucher disease is providing insights into additional therapeutic targets, enabling the potential for optimized patient outcomes with the use of adjunctive or supplemental agents.
American Psychological Association (APA)
Tantawi, Azzah A. G.. 2015. Cytokines in gaucher disease : role in the pathogenesis of bone and pulmonary disease. The Egyptian Journal of Medical Human Genetics،Vol. 16, no. 3, pp.207-213.
https://search.emarefa.net/detail/BIM-578254
Modern Language Association (MLA)
Tantawi, Azzah A. G.. Cytokines in gaucher disease : role in the pathogenesis of bone and pulmonary disease. The Egyptian Journal of Medical Human Genetics Vol. 16, no. 3 ( 2015), pp.207-213.
https://search.emarefa.net/detail/BIM-578254
American Medical Association (AMA)
Tantawi, Azzah A. G.. Cytokines in gaucher disease : role in the pathogenesis of bone and pulmonary disease. The Egyptian Journal of Medical Human Genetics. 2015. Vol. 16, no. 3, pp.207-213.
https://search.emarefa.net/detail/BIM-578254
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 212-213
Record ID
BIM-578254