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Monogenic Autoinflammatory Syndromes
Book chapter

Monogenic Autoinflammatory Syndromes

Marco Gattorno, Alberto Martini, Raphaela Goldbach-Mansky, Pamela Aubert and Polly J Ferguson
A Clinician's Pearls and Myths in Rheumatology, pp.33-49
Springer London
2009
DOI: 10.1007/978-1-84800-934-9_5

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Abstract

“Autoinflammatory syndromes” is the broad name given to a group of heritable conditions that initially consisted of a group of diseases termed hereditary periodic fever syndromes. Autoinflammatory syndrome is the preferred name for these conditions, because not all of the disorders that have been added to this class of inflammatory disorde rs present with periodic febrile episodes. In contrast to autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis, autoanti-bodies and antigen-specific T cells do not play a role in the pathogenesis of the autoinflammatory syndromes. Although the term autoinflammatory syndrome is now commonly used to include polygenic diseases such as Behcet's syndrome, Still's disease, and even Type 2 diabetes, this chapter addresses the monogenic autoin-flammatory syndromes. These syndromes demonstrate a Mendelian inheritance pattern, and their genetic causes have been identified. The disorders typically present in childhood. The disorders are divided into different clinical syndromes that include mixtures of clinical manifestations in the joints, the bones, the skin, the abdomen, and the lymph nodes.
Chronic Recurrent Multifocal Osteomyelitis Pyoderma Gangrenosum Familial Mediterranean Fever Patient MEFV Gene Familial Mediterranean Fever

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