Book chapter
Chapter 24 - Classic Autoinflammatory Diseases: Monogenic Autoinflammatory Diseases Caused by Defects in CIAS1, MEFV, TNFRSF1A, MVK, and PSTPIP1
Stiehm's Immune Deficiencies, pp.517-550
Elsevier Inc
2014
DOI: 10.1016/B978-0-12-405546-9.00024-8
Abstract
Monogenic autoinflammatory diseases are a group of immune dysregulatory conditions that present with “excessive” inflammation and clinically cause fever, rashes arthritis/arthralgia, serositis, meningitis, and inner ear, eye, bone, and/or gut inflammation. The pattern of organ inflammation in the various conditions often allows a specific diagnosis on clinical grounds. At the onset, autoinflammatory conditions can resemble infections or hematopoietic malignancies, warranting a careful work-up. Effective treatment options for several of these conditions, including colchicine in FMF and anticytokine therapies, and mainly anti IL-1 blocking therapies in other conditions, can halt the progression or development of inflammation-mediated organ damage and thus make an early diagnosis in these conditions imperative. The subsequent five chapters, Chapters 25–29, describe the currently known monogenic autoinflammatory syndromes. This chapter describes the group of cryopyrin associated periodic syndromes (CAPS) that comprise the clinical continuum of neonatal onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome (MWS), and familial cold autoinflammatory syndrome (FCAS); the three classic hereditary “periodic fever syndromes” of familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), and mevalonate kinase deficiency/hyperimmunoglobulinemia D with periodic fever syndrome or mevalonate kinase deficiency (HIDS/MKD); and the pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.
Details
- Title: Subtitle
- Chapter 24 - Classic Autoinflammatory Diseases: Monogenic Autoinflammatory Diseases Caused by Defects in CIAS1, MEFV, TNFRSF1A, MVK, and PSTPIP1
- Creators
- Adriana A de Jesus - Translational Autoinflammatory Disease Section, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USAPolly 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.517-550
- DOI
- 10.1016/B978-0-12-405546-9.00024-8
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 2014
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Rheumatology, Allergy, and Immunology
- Record Identifier
- 9984070953702771
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