{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T12:14:01Z","timestamp":1792066441207,"version":"4.4.0"},"reference-count":53,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,7,14]],"date-time":"2025-07-14T00:00:00Z","timestamp":1752451200000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003390","name":"Fritz Thyssen Stiftung","doi-asserted-by":"publisher","award":["Az. 10.13.2.190"],"award-info":[{"award-number":["Az. 10.13.2.190"]}],"id":[{"id":"10.13039\/501100003390","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Eur J Immunol"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Reticular dysgenesis (RD) is a rare genetic disorder caused by mutations in the adenylate kinase 2 (\n                    <jats:italic>AK2<\/jats:italic>\n                    ) gene. It is characterized by a T\n                    <jats:sup>\u2212<\/jats:sup>\n                    B\n                    <jats:sup>\u2212<\/jats:sup>\n                    severe combined immunodeficiency, agranulocytosis, and sensorineural deafness. We established and characterized a haematopoiesis\u2010specific conditional\n                    <jats:italic>Ak2<\/jats:italic>\n                    \u2010knockout mouse model to provide a model system to study the molecular pathophysiology of RD. As expected from the human phenotype of RD, haematopoiesis\u2010specific AK2\u2010deficient embryos had a small, atrophic thymus consisting mainly of epithelial cells. No recognizable T\u2010cell component was observed, but B\u2010cell 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\u2010forming precursors were not reduced. In contrast to humans, haematopoiesis\u2010specific\n                    <jats:italic>Ak2<\/jats:italic>\n                    \u2010knockout 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.\n                  <\/jats:p>","DOI":"10.1002\/eji.202451466","type":"journal-article","created":{"date-parts":[[2025,7,14]],"date-time":"2025-07-14T10:35:51Z","timestamp":1752489351000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["AK2\u2010Deficient Mice Recapitulate Impaired Lymphopoiesis of Reticular Dysgenesis Patients, but Also Lack Erythropoiesis"],"prefix":"10.1002","volume":"55","author":[{"given":"Rebekka","family":"Waldmann","sequence":"first","affiliation":[{"name":"Institute For Transfusion Medicine Ulm University  Ulm Germany"},{"name":"Institute For Clinical Transfusion Medicine and Immunogenetics Ulm German Red Cross Blood Transfusion Service Baden\u2010Wuerttemberg\u2010Hessen and University Hospital Ulm 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