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Subproject 4

The role of the Trex1-, RNase H2- and SAMHD1-associated intracellular nucleic acid metabolism during restriction of retroelements - implications for the pathogenesis of systemic autoimmunity

The phenotypic spectrum of disorders caused by mutations in the genes encoding Trex1, RNase H2 and SAMHD1 includes cutaneous and systemic forms of lupus erythematosus and Aicardi-Goutières syndrome. These disorders are characterized by signs of systemic autoimmunity and chronic activation of the IFN-α-axis. Deficiency of the DNase Trex1 is associated with the intracellular accumulation of ssDNA, which has been attributed to defects in apoptosis, cell cycle or the replication of endogenous retroviruses. Thus impairment of the intracellular nucleic acid metabolism can initiate autoimmunity by cell-intrinsic activation of the innate immune system. The aim of this project is to dissect the molecular mechanisms underlying the activation of the innate immune system due to defects in the metabolism of nucleic acids. The expected results will contribute to a better understanding of the pathogenesis of systemic autoimmunity.

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Project leaders:

Prof. Dr. med.
Min Ae Lee-Kirsch

Klinik und Poliklinik für
Kinder- und Jugendmedizin
Tel.: 0351-458 6887
Email: minae.lee-kirsch@


Anna Shevchenko

Dr. rer. nat.
Anna Shevchenko
(1st funding period)

Max Planck Institute of
Molecular Cell Biology
and Genetics
Tel.: 0351-210 2616


Victoria Tüngler

Dr. med.
Victoria Tüngler
(2nd funding period)

Klinik und Poliklinik für
Kinder- und Jugendmedizin
Tel.: 0351-458 18781
Email: victoria.tuengler@