Ferguson Polly J, El-Shanti Hatem I
Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.
Curr Opin Rheumatol. 2007 Sep;19(5):492-8. doi: 10.1097/BOR.0b013e32825f5492.
This review provides an update on clinical, genetic, and immunologic aspects of the autoinflammatory bone disorders.
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.
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 autoinflammatory disorders.
本综述提供了自身炎症性骨病临床、遗传和免疫方面的最新进展。
骨的慢性非感染性炎症是慢性复发性多灶性骨髓炎和（程度较轻的） cherubism的临床特征。已确定了与马吉德综合征（LPIN2）、小鼠慢性多灶性骨髓炎（pstpip2）和cherubism（SH3BP2以及可能的PTPN11）相关的基因。慢性复发性多灶性骨髓炎和cherubism的小鼠模型均表明，骨炎症由造血来源的细胞介导，且在适应性免疫系统功能缺失的情况下也可发生。随着免疫缺陷得到更明确的界定，髓系谱系细胞正成为主要参与者。
慢性多灶性骨髓炎和cherubism是遗传性慢性炎症性疾病，其中骨是主要的炎症靶点。最近的遗传和免疫发现表明先天性免疫系统参与其中，这将这些疾病归入自身炎症性疾病类别。
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