Monogenic Autoinflammatory Syndromes

  • Marco Gattorno
  • Alberto Martini
  • Raphaela Goldbach-Mansky
  • Pamela Aubert
  • Polly J. Ferguson


“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.


Familial Mediterranean Fever Pyoderma Gangrenosum Familial Mediterranean Fever Patient Chronic Recurrent Multifocal Osteomyelitis MEFV Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We would like to thank Dr. Daniel Kastner for sharing his expertise and suggestions for the myths and pearls in the FMF section.


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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Marco Gattorno
    • 1
  • Alberto Martini
    • 1
  • Raphaela Goldbach-Mansky
    • 2
  • Pamela Aubert
    • 2
  • Polly J. Ferguson
    • 3
  1. 1.Instituto G. GasliniUniversity of Genova, Pediatria HGenovaItaly
  2. 2.National Institute of Arthritis & Musculoskeletal DiseaseNational Institutes of HealthBethesdaUSA
  3. 3.Department of Pediatrics / RheumatologyChildren's Hospital of IowaIowa City

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