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@ARTICLE{Waldmann:302851,
      author       = {R. Waldmann and F. Werner and A. Tasdogan$^*$ and F. I.
                      Maier and U. Kohlhofer and I. Gonzalez-Menendez and L. Q. de
                      Fend and A. K. Puarr and R. M. Arkell and A. Enders and M.
                      Hoenig and H. Schrezenmeier and H. J. Fehling and K. Schwarz
                      and U. Pannicke},
      title        = {{AK}2-{D}eficient {M}ice {R}ecapitulate {I}mpaired
                      {L}ymphopoiesis of {R}eticular {D}ysgenesis {P}atients, but
                      {A}lso {L}ack {E}rythropoiesis.},
      journal      = {European journal of immunology},
      volume       = {55},
      number       = {7},
      issn         = {0014-2980},
      address      = {Weinheim},
      publisher    = {Wiley-VCH},
      reportid     = {DKFZ-2025-01391},
      pages        = {e51466},
      year         = {2025},
      abstract     = {Reticular dysgenesis (RD) is a rare genetic disorder caused
                      by mutations in the adenylate kinase 2 (AK2) gene. It is
                      characterized by a T-B- severe combined immunodeficiency,
                      agranulocytosis, and sensorineural deafness. We established
                      and characterized a haematopoiesis-specific conditional
                      Ak2-knockout mouse model to provide a model system to study
                      the molecular pathophysiology of RD. As expected from the
                      human phenotype of RD, haematopoiesis-specific AK2-deficient
                      embryos had a small, atrophic thymus consisting mainly of
                      epithelial cells. No recognizable T-cell component was
                      observed, but B-cell lineage precursor cells were present in
                      the foetal liver. The effects of AK2 deficiency on
                      myelopoiesis were less severe in mice than in humans. The
                      absolute numbers of monocytes, macrophages, granulocytes and
                      megakaryocytes in foetal liver as well as colony-forming
                      precursors were not reduced. In contrast to humans,
                      haematopoiesis-specific Ak2-knockout mice exhibit embryonic
                      lethality between E13 and E15 due to severe anaemia caused
                      by an early block in definitive erythropoiesis. Murine
                      erythroid progenitors mainly express AK2 and only low levels
                      of functionally related kinases, which are unable to
                      compensate for AK2 deficiency, in contrast to human
                      erythroid progenitors.},
      keywords     = {Animals / Mice, Knockout / Mice / Erythropoiesis: genetics
                      / Erythropoiesis: immunology / Lymphopoiesis: genetics /
                      Humans / Adenylate Kinase: genetics / Adenylate Kinase:
                      deficiency / Adenylate Kinase: metabolism / Disease Models,
                      Animal / Severe Combined Immunodeficiency: genetics / Thymus
                      Gland: pathology / Leukopenia / AK2‐deficient mouse model
                      (Other) / impaired lymphopoiesis (Other) / reticular
                      dysgenesis (Other) / severe anaemia (Other) / adenylate
                      kinase 2 (NLM Chemicals) / Adenylate Kinase (NLM Chemicals)},
      cin          = {ED01},
      ddc          = {610},
      cid          = {I:(DE-He78)ED01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40654267},
      pmc          = {pmc:PMC12257577},
      doi          = {10.1002/eji.202451466},
      url          = {https://inrepo02.dkfz.de/record/302851},
}