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periodic fever syndrome : ウィキペディア英語版
periodic fever syndrome

The periodic fever syndromes (also known as autoinflammatory diseases or autoinflammatory syndromes) are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, patients with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized by errors in the innate immune system.〔Masters SL, Simon A, Aksentijevich I, et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease
*. Annu Rev Immunol 2009;27(1):621–68〕
The syndromes are diverse, but tend to cause episodes of fever, joint pains, skin rashes, abdominal pains and may lead to chronic complications such as amyloidosis.
Most autoinflammatory diseases are genetic and present during childhood. The most common genetic autoinflammatory syndrome is familial Mediterranean fever, which causes short episodes of fever, abdominal pain, serositis, lasting less than 72 hours. It is caused by mutations in the MEFV gene, which codes for the protein pyrin.
Pyrin is a protein normally present in the inflammasome. The mutated pyrin protein is thought to cause inappropriate activation of the inflammasome, leading to release of the pro-inflammatory cytokine IL-1β. Most other autoinflammatory diseases also cause disease by inappropriate release of IL-1β. Thus, IL-1β has become a common therapeutic target, and medications such as anakinra, rilonacept, and canakinumab have revolutionized the treatment of autoinflammatory diseases.
However, there are some autoinflammatory diseases that are not known to have a clear genetic cause. This includes PFAPA, which is the most common autoinflammatory disease seen in children, characterized by episodes of fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Other autoinflammatory diseases that do not have clear genetic causes include Adult-onset Still's disease, Systemic-onset juvenile idiopathic arthritis, Schnitzler syndrome, and Chronic recurrent multifocal osteomyelitis. It is likely that these diseases are multifactorial, with genes that make people susceptible to these diseases, but they require an additional environmental factor to trigger the disease.
An other example that shows that autoinflamatory conditions may not be genetic in origin is found in a report published in ''Nature''〔John R. Lukens, Prajwal Gurung, Peter Vogel, Gordon R. Johnson, Robert A. Carter, Daniel J. McGoldrick, Srinivasa Rao Bandi, Christopher R. Calabrese, Lieselotte Vande Walla, Mohamed Lamkanfi y Thirumala-Devi Kanneganti (2014). “Dietary modulation of the microbiome affects autoinflammatory disease”.〕 which shows that diet is very important in the development of such diseases. The ingestion levels of highly saturated fats and cholesterol, (high fat diet, HFD) affects the microbiota composition of the gut. Changes in the microbiota induced by a HFD are protective against the susceptibility to develop osteomyelitis (autoimmune disease) as compared with the changes induced by a low-fat diet. The changes in the microbiome of individuals under HFD showed a reduction in ''Prevotella'' abundance and were accompanied by significantly reduced expression levels of pro-Interleukin-1β in distant neutrophils.
== Individual periodic fever syndromes ==


抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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