Defekte des angeborenen Immunsystems bei Autoinflammation und Autoimmunität

TRR237

TRR369

GAIN

SaxoChild

DZKJ

Alliance4Rare

ERN-RITA

Merold, V., Bekere, I., Kretschmer, S., Schnell, A.F., Kmiec, D., Sivarajan, R., Lammens, K., Liu, R., Mergner, J., Teppert, J., Hirschenberger, M., Henrici, A., Hammes, S., Buder, K., Weitz, M., Hackmann, K., Koenig, L.M., Pichlmair, A., Schwierz, N., Sparrer, K.M.J., Lee-Kirsch, M.A., de Oliveira Mann, C.C., 2025. Structural basis for OAS2 regulation and its antiviral function. Mol Cell. 85, 2176-2193.e13. https://doi.org/10.1016/j.molcel.2025.05.001, open access

Wolf, C., Lim, E.L., Mokhtari, M., Kind, B., Odainic, A., Lara-Villacanas, E., Koss, S., Mages, S., Menzel, K., Engel, K., Dückers, G., Bernbeck, B., Schneider, D.T., Siepermann, K., Niehues, T., Goetzke, C.C., Durek, P., Minden, K., Dörner, T., Stittrich, A., Szelinski, F., Guerra, G.M., Massoud, M., Bieringer, M., de Oliveira Mann, C.C., Beltrán, E., Kallinich, T., Mashreghi, M.-F., Schmidt, S.V., Latz, E., Klughammer, J., Majer, O., Lee-Kirsch, M.A., 2024. UNC93B1 variants underlie TLR7-dependent autoimmunity. Sci Immunol. eadi9769. https://doi.org/10.1126/sciimmunol.adi9769

Luca, D., Lee, S., Hirota, K., Okabe, Y., Uehori, J., Izawa, K., Lanz, A.-L., Schütte, V., Sivri, B., Tsukamoto, Y., Hauck, F., Behrendt, R., Roers, A., Fujita, T., Nishikomori, R., Lee-Kirsch, M.A., Kato, H., 2024. Aberrant RNA sensing in regulatory T cells causes systemic autoimmunity. Sci Adv. 10, eadk0820. https://doi.org/10.1126/sciadv.adk0820, open access

Manoharan, J., Rana, R., Kuenze, G., Gupta, D., Elwakiel, A., Ambreen, S., Wang, H., Banerjee, K., Zimmermann, S., Singh, K., Gupta, A., Fatima, S., Kretschmer, S., Schaefer, L., Zeng-Brouwers, J., Schwab, C., Al-Dabet, M.M., Gadi, I., Altmann, H., Koch, T., Poitz, D.M., Baber, R., Kohli, S., Shahzad, K., Geffers, R., Lee-Kirsch, M.A., Kalinke, U., Meiler, J., Mackman, N., Isermann, B., 2024. Tissue factor binds to and inhibits interferon-α receptor 1 signaling. Immunity. 57, 68-85.e11. https://doi.org/10.1016/j.immuni.2023.11.017, open access

Wolf, C., Fischer, H., Kühl, J.-S., Koss, S., Jamra, R.A., Starke, S., Schultz, J., Ehl, S., Neumann, K., Schuetz, C., Huber, R., Hornung, V., Lee-Kirsch, M.A., 2023. Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9. J Allergy Clin Immunol. 152, 1336-1344.e5. https://doi.org/10.1016/j.jaci.2023.07.013, open access

König, N., Fiehn, C., Wolf, C., Schuster, M., Cura Costa, E., Tüngler, V., Alvarez, H.A., Chara, O., Engel, K., Goldbach-Mansky, R., Günther, C., Lee-Kirsch, M.A., 2017. Familial chilblain lupus due to a gain-of-function mutation in STING. Ann Rheum Dis. 76, 468–472. https://doi.org/10.1136/annrheumdis-2016-209841

Wolf, C., Rapp, A., Berndt, N., Staroske, W., Schuster, M., Dobrick-Mattheuer, M., Kretschmer, S., König, N., Kurth, T., Wieczorek, D., Kast, K., Cardoso, M.C., Günther, C., Lee-Kirsch, M.A., 2016. RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA. Nat Commun. 7, 11752. https://doi.org/10.1038/ncomms11752, open access

Gunther, C., Kind, B., Reijns, M.A., Berndt, N., Martinez-Bueno, M., Wolf, C., Tungler, V., Chara, O., Lee, Y.A., Hubner, N., Bicknell, L., Blum, S., Krug, C., Schmidt, F., Kretschmer, S., Koss, S., Astell, K.R., Ramantani, G., Bauerfeind, A., Morris, D.L., Cunninghame Graham, D.S., Bubeck, D., Leitch, A., Ralston, S.H., Blackburn, E.A., Gahr, M., Witte, T., Vyse, T.J., Melchers, I., Mangold, E., Nothen, M.M., Aringer, M., Kuhn, A., Luthke, K., Unger, L., Bley, A., Lorenzi, A., Isaacs, J.D., Alexopoulou, D., Conrad, K., Dahl, A., Roers, A., Alarcon-Riquelme, M.E., Jackson, A.P., Lee-Kirsch, M.A., 2015. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest. 125, 413–424. doi: 10.1172/JCI78001, open access

Yan, N., Regalado-Magdos, A.D., Stiggelbout, B., Lee-Kirsch, M.A., Lieberman, J., 2010. The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. Nat Immunol. 11, 1005–1013. doi: 10.1038/ni.1941., open access

Lee-Kirsch, M.A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y.A., de, S.U., Bailey, S.L., Witte, T., Vyse, T.J., Kere, J., Pfeiffer, C., Harvey, S., Wong, A., Koskenmies, S., Hummel, O., Rohde, K., Schmidt, R.E., Dominiczak, A.F., Gahr, M., Hollis, T., Perrino, F.W., Lieberman, J., Hubner, N., 2007. Mutations in the gene encoding the 3’-5’ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 39, 1065–1067. doi: 10.1038/ng2091