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@ARTICLE{Wolf:268464,
      author       = {Wolf, Christine and Lim, Ee Lyn and Mokhtari, Mohammad and
                      Kind, Barbara and Odainic, Alexandru and Lara-Villacanas,
                      Eusebia and Koss, Sarah and Mages, Simon and Menzel,
                      Katharina and Engel, Kerstin and Dückers, Gregor and
                      Bernbeck, Benedikt and Schneider, Dominik T and Siepermann,
                      Kathrin and Niehues, Tim and Goetzke, Carl Christoph and
                      Durek, Pawel and Minden, Kirsten and Dörner, Thomas and
                      Stittrich, Anna and Szelinski, Franziska and Guerra,
                      Gabriela Maria and Massoud, Mona and Bieringer, Markus and
                      de Oliveira Mann, Carina C and Beltrán, Eduardo and
                      Kallinich, Tilmann and Mashreghi, Mir-Farzin and Schmidt,
                      Susanne V and Latz, Eicke and Klughammer, Johanna and Majer,
                      Olivia and Lee-Kirsch, Min Ae},
      title        = {{UNC}93{B}1 variants underlie {TLR}7-dependent
                      autoimmunity.},
      journal      = {Science immunology},
      volume       = {9},
      number       = {92},
      issn         = {2470-9468},
      address      = {Washington, DC},
      publisher    = {AAAS},
      reportid     = {DZNE-2024-00216},
      pages        = {eadi9769},
      year         = {2024},
      abstract     = {UNC93B1 is critical for trafficking and function of nucleic
                      acid-sensing Toll-like receptors (TLRs) TLR3, TLR7, TLR8,
                      and TLR9, which are essential for antiviral immunity.
                      Overactive TLR7 signaling induced by recognition of
                      self-nucleic acids has been implicated in systemic lupus
                      erythematosus (SLE). Here, we report UNC93B1 variants (E92G
                      and R336L) in four patients with early-onset SLE. Patient
                      cells or mouse macrophages carrying the UNC93B1 variants
                      produced high amounts of TNF-α and IL-6 and upon
                      stimulation with TLR7/TLR8 agonist, but not with TLR3 or
                      TLR9 agonists. E92G causes UNC93B1 protein instability and
                      reduced interaction with TLR7, leading to selective TLR7
                      hyperactivation with constitutive type I IFN signaling.
                      Thus, UNC93B1 regulates TLR subtype-specific mechanisms of
                      ligand recognition. Our findings establish a pivotal role
                      for UNC93B1 in TLR7-dependent autoimmunity and highlight the
                      therapeutic potential of targeting TLR7 in SLE.},
      keywords     = {Mice / Animals / Humans / Toll-Like Receptor 7: genetics /
                      Autoimmunity: genetics / Toll-Like Receptor 9: metabolism /
                      Toll-Like Receptor 8 / Toll-Like Receptor 3: metabolism /
                      Lupus Erythematosus, Systemic: genetics / Membrane Transport
                      Proteins / Toll-Like Receptor 7 (NLM Chemicals) / Toll-Like
                      Receptor 9 (NLM Chemicals) / Toll-Like Receptor 8 (NLM
                      Chemicals) / Toll-Like Receptor 3 (NLM Chemicals) / TLR7
                      protein, human (NLM Chemicals) / UNC93B1 protein, human (NLM
                      Chemicals) / Membrane Transport Proteins (NLM Chemicals) /
                      UNC93B1 protein, mouse (NLM Chemicals)},
      cin          = {AG Latz ; AG Latz},
      ddc          = {610},
      cid          = {I:(DE-2719)1013024},
      pnm          = {351 - Brain Function (POF4-351)},
      pid          = {G:(DE-HGF)POF4-351},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38207055},
      doi          = {10.1126/sciimmunol.adi9769},
      url          = {https://pub.dzne.de/record/268464},
}