Monogenic autoinflammatory diseases.

[familial mediterranean fever]

During the past 15 years , a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified . The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system . Diagnosis remains clinical , with genetic confirmation where feasible . Although a group of patients exhibit episodic systemic inflammation (periodic fevers ), these disorders are mediated by continuous overproduction and release of pro-inflammatory mediators , such as IL -1 and IL -6 , and TNF and are best considered as autoinflammatory diseases rather than periodic fevers . Treatment with biologic agents that block these cytokines , particularly IL -1 , has proved to be dramatically effective in some patients . Still , in many cases of autoinflammation no genetic abnormalities are detected and treatment remains suboptimal , raising the question of novel pathogenic mutations in unexplored genes and pathways .

Diseases
Validation

Diseases presenting "respective responsible genes" symptom

familial mediterranean fever

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