KFO 249: Defects of the Innate Immune System in Autoinflammation and Autoimmunity

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The innate immune system plays a central role in defending microorganisms and in dealing with inflammatory processes. The Clinical Research Unit focusses on identifying new pathophysiological mechanisms of hereditary diseases caused by defects in the innate immune system. The phenotypic spectrum of the disorders analysed includes periodic fever, cutane and systemic variants of lupus erythematosus as well as the Aicardi-Goutières syndrome, an autoimmunity-related encephalopathy. A common characteristic of these diseases is the fact that their underlying genetic changes point to so far unknown mechanisms in relation to the innate immune system. On the basis of genetically determined autoinflammatory and autoimmunological disorders, the effects of mutations in genes of the innate immune system will be analysed by eight subgroups of the Clinical Research Unit at the molecular and cellular level as well as in animal models and in patients. Furthermore, the scientists will correlate effects of genetic mutations with clinical data. The expected results are supposed to provide fundamental insights into the molecular pathogenesis of defects occurring in the innate immune system. In addition, the findings shall support the development of clinical therapies. In this regard, the gene products, their interaction partners and the signalling pathways involved do not only represent the basis for improved diagnostic possibilities. Moreover, they are potential target molecules, which can essentially contribute to the development of new causally oriented therapy approaches.