Autoinflammatory bone disorders.
OBJECTIVE
This review provides an update on clinical, genetic, and immunologic aspects of the autoinflammatory bone disorders.


RESULTS
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.


CONCLUSIONS
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.
Ferguson
Polly J
PJ
Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA. polly-ferguson@uiowa.edu
El-Shanti
Hatem I
HI
D000818:Animals; D015551:Autoimmunity / Q000235:genetics; D002636:Cherubism / Q000235:genetics / Q000276:immunology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004195:Disease Models, Animal; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000503:physiopathology*; D051379:Mice; D010019:Osteomyelitis / Q000235:genetics / Q000276:immunology* / Q000503:physiopathology