Book chapter
Genetic Causes of Inflammatory Bone Disease
Textbook of Autoinflammation, pp.455-470
Springer International Publishing
02/14/2019
DOI: 10.1007/978-3-319-98605-0_25
Abstract
This chapter focuses on monogenic autoinflammatory disorders that affect bone. The presence of sterile bone inflammation may be accompanied by inflammation of the skin and intestinal tract. The pathophysiology varies by syndrome and includes dysregulation of the IL-1 pathway or aberrant intracellular signaling defects leading to activation of innate immune cells including osteoclasts. These are rare disorders with variable outcomes. IL-1 inhibitors have been used successfully to decrease inflammation in Majeed syndrome, deficiency of the interleukin receptor antagonist and for non-osseous manifestations of neonatal onset multisystem inflammatory disease. For other disorders such as cherubism, treatment remains challenging. Recognition of additional monogenic autoinflammatory is likely as this is a very new field of investigation.
Details
- Title: Subtitle
- Genetic Causes of Inflammatory Bone Disease
- Creators
- James Verbsky - Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USAPolly J Ferguson - Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, USA
- Resource Type
- Book chapter
- Publication Details
- Textbook of Autoinflammation, pp.455-470
- DOI
- 10.1007/978-3-319-98605-0_25
- Publisher
- Springer International Publishing; Cham
- Language
- English
- Date published
- 02/14/2019
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Rheumatology, Allergy, and Immunology
- Record Identifier
- 9984071723802771
Metrics
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