Book chapter
Chapter 25 - Autoinflammatory Diseases Predominantly Affecting Bone and Joints
Stiehm's Immune Deficiencies, pp.551-572
Elsevier Inc
2014
DOI: 10.1016/B978-0-12-405546-9.00025-X
Abstract
Autoinflammatory disorders are innate immune system activation disorders. Individuals with autoinflammatory disorders classically have recurrent episodes of inflammation that occur in the absence of high-titer autoantibodies and autoreactive T cells, making them distinct from autoimmune disorders. Familial Mediterranean fever (FMF) is the archetypal autoinflammatory syndrome. Since the discovery of mutations in MEFV being causative for FMF and the discovery of mutations in TNFRSF1A in TNF-receptor associated periodic fever syndrome (TRAPS), many other disorders have been found to have an autoinflammatory basis. This chapter focuses on autoinflammatory disorders that primarily affect the bone and/or joints. These disorders often are associated with inflammation of the skin and other organs. The genetic basis for several of these disorders is known, and each mutation leads to dysregulation of the innate immune system, resulting in enhanced proinflammatory responses.
Details
- Title: Subtitle
- Chapter 25 - Autoinflammatory Diseases Predominantly Affecting Bone and Joints
- Creators
- Polly J Ferguson - University of Iowa Carver College of Medicine, Department of Pediatrics, Iowa City, IA, USARaphaela Goldbach-Mansky - Translational Autoinflammatory Disease Section, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA
- Resource Type
- Book chapter
- Publication Details
- Stiehm's Immune Deficiencies, pp.551-572
- DOI
- 10.1016/B978-0-12-405546-9.00025-X
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 2014
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Rheumatology, Allergy, and Immunology
- Record Identifier
- 9984070724902771
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