Autoinflammatory bone disorders

被引:115
作者
Ferguson, Polly J. [1 ]
El-Shanti, Hatem I. [1 ]
机构
[1] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA
关键词
autoinflammatory; cherubism; chronic recurrent multifocal osteomyelitis; genetics; osteomyelitis;
D O I
10.1097/BOR.0b013e32825f5492
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Purpose of review This review provides an update on clinical, genetic, and immunologic aspects of the autoinflammatory bone disorders. Recent findings Chronic noninfectious inflammation of the bone is a clinical feature of both chronic recurrent multifocal osteomyelitis and (to a lesser degree) cherubism. The genes responsible for Majeed syndrome (LPIN2), murine chronic multifocal osteomyelitis (pstpip2), and cherubism (SH3BP2 and possibly PTPN11) have been identified. Murine models of both chronic recurrent multifocal osteomyelitis and cherubism have demonstrated that the bone inflammation is mediated by hematopoietically derived cells and can occur in the absence of a functioning adaptive immune system. As the immunologic defects become better defined, the cells of the myeloid lineage are emerging as the primary players. Summary Chronic multifocal osteomyelitis and cherubism are hereditary chronic inflammatory disorders in which bone is the primary inflammatory target. Recent genetic and immunologic discoveries demonstrate involvement of the innate immune system, which places these entities in the category of autoinflarnmatory disorders.
引用
收藏
页码:492 / 498
页数:7
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