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Central giant cell lesion

Central giant cell lesion is an autoinflammatory leasion of the mandible wich is caused by autosomal dominant mutations of the SH3BP2 gene. The phenotyp is overlapping with the other diseases caused by mutations of this gene.

Systematic

SH3BP2 deficienc with multilocular cysticy disease of the mandibles
Central giant cell lesion
SH3BP2
Cherubism
Familial multilocular cystic disease of the jaws

References:

1.

Bell SM et al. (1997) Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.

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2.

Ueki Y et al. (2001) Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.

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3.

Lo B et al. (2003) Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.

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4.

Ueki Y et al. (2007) Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice.

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5.

Wikipedia article

Wikipedia EN (Central_giant-cell_granuloma) external link
Update: Aug. 14, 2020
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