Clinical Research Unit 249 - Defects of the innate immune system in autoinflammation and autoimmunity
The innate immune system plays a central role in the defense against microorganisms and in inflammatory processes. The focus of Clinical Research Unit 249 "Defects of the Innate Immune System in Autoinflammatory and Autoimmunological Diseases" is the identification of novel pathophysiological mechanisms of hereditary diseases associated with disorders of the innate immune system. The phenotypic spectrum of the diseases studied includes periodic fever, cutaneous and systemic forms of lupus erythematosus, and Aicardi-Goutières syndrome, an autoimmune encephalopathy. Common to all diseases is that the associated genetic alterations point to previously unknown pathogenetic mechanisms within the innate immune system.
Starting from genetically defined autoinflammatory and autoimmunological diseases, the effects of mutations in genes involved in inflammasome formation and nucleic acid metabolism will be analyzed at the molecular and cellular level as well as in animal models and patients and correlated with clinical data. The expected results will provide new fundamental insights into the molecular pathogenesis of defects of the innate immune system and will be translated into clinically applicable concepts in the long term. Thus, the implicated gene products, their interaction partners and the signaling pathways involved not only form the basis for improved diagnostic possibilities, they also represent potential target molecules that can serve as starting points for the development of new causally oriented therapeutic approaches.
The Clinical Research Unit 249 is an interdisciplinary research network and is funded by the German Research Foundation (DFG).
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