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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2012

Open Access 01-06-2012 | Proceedings

The role of SH3BP2 in the pathophysiology of cherubism

Authors: Ernst J Reichenberger, Michael A Levine, Bjorn R Olsen, Maria E Papadaki, Steven A Lietman

Published in: Orphanet Journal of Rare Diseases | Special Issue 1/2012

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Abstract

Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress spontaneously thereafter. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. In this review we discuss the genetics of cherubism, the biological functions of SH3BP2 and the analysis of the mouse model. The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans.
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Metadata
Title
The role of SH3BP2 in the pathophysiology of cherubism
Authors
Ernst J Reichenberger
Michael A Levine
Bjorn R Olsen
Maria E Papadaki
Steven A Lietman
Publication date
01-06-2012
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue Special Issue 1/2012
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-7-S1-S5

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