Polly J Ferguson1, Hatem I El-Shanti. 1. Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA. polly-ferguson@uiowa.edu
Abstract
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 autoinflammatory disorders.
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 autoinflammatory disorders.
Authors: Ivona Aksentijevich; Seth L Masters; Polly J Ferguson; Paul Dancey; Joost Frenkel; Annet van Royen-Kerkhoff; Ron Laxer; Ulf Tedgård; Edward W Cowen; Tuyet-Hang Pham; Matthew Booty; Jacob D Estes; Netanya G Sandler; Nicole Plass; Deborah L Stone; Maria L Turner; Suvimol Hill; John A Butman; Rayfel Schneider; Paul Babyn; Hatem I El-Shanti; Elena Pope; Karyl Barron; Xinyu Bing; Arian Laurence; Chyi-Chia R Lee; Dawn Chapelle; Gillian I Clarke; Kamal Ohson; Marc Nicholson; Massimo Gadina; Barbara Yang; Benjamin D Korman; Peter K Gregersen; P Martin van Hagen; A Elisabeth Hak; Marjan Huizing; Proton Rahman; Daniel C Douek; Elaine F Remmers; Daniel L Kastner; Raphaela Goldbach-Mansky Journal: N Engl J Med Date: 2009-06-04 Impact factor: 91.245
Authors: Violeta Chitu; Polly J Ferguson; Rosalie de Bruijn; Annette J Schlueter; Luis A Ochoa; Thomas J Waldschmidt; Yee-Guide Yeung; E Richard Stanley Journal: Blood Date: 2009-07-16 Impact factor: 22.113