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000302851 1001_ $$aWaldmann, Rebekka$$b0
000302851 245__ $$aAK2-Deficient Mice Recapitulate Impaired Lymphopoiesis of Reticular Dysgenesis Patients, but Also Lack Erythropoiesis.
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000302851 520__ $$aReticular 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.
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000302851 650_7 $$2Other$$aAK2‐deficient mouse model
000302851 650_7 $$2Other$$aimpaired lymphopoiesis
000302851 650_7 $$2Other$$areticular dysgenesis
000302851 650_7 $$2Other$$asevere anaemia
000302851 650_7 $$0EC 2.7.4.3$$2NLM Chemicals$$aadenylate kinase 2
000302851 650_7 $$0EC 2.7.4.3$$2NLM Chemicals$$aAdenylate Kinase
000302851 650_2 $$2MeSH$$aAnimals
000302851 650_2 $$2MeSH$$aMice, Knockout
000302851 650_2 $$2MeSH$$aMice
000302851 650_2 $$2MeSH$$aErythropoiesis: genetics
000302851 650_2 $$2MeSH$$aErythropoiesis: immunology
000302851 650_2 $$2MeSH$$aLymphopoiesis: genetics
000302851 650_2 $$2MeSH$$aHumans
000302851 650_2 $$2MeSH$$aAdenylate Kinase: genetics
000302851 650_2 $$2MeSH$$aAdenylate Kinase: deficiency
000302851 650_2 $$2MeSH$$aAdenylate Kinase: metabolism
000302851 650_2 $$2MeSH$$aDisease Models, Animal
000302851 650_2 $$2MeSH$$aSevere Combined Immunodeficiency: genetics
000302851 650_2 $$2MeSH$$aThymus Gland: pathology
000302851 650_2 $$2MeSH$$aLeukopenia
000302851 7001_ $$aWerner, Franziska$$b1
000302851 7001_ $$0P:(DE-HGF)0$$aTasdogan, Alpaslan$$b2
000302851 7001_ $$aMaier, Felix Immanuel$$b3
000302851 7001_ $$aKohlhofer, Ursula$$b4
000302851 7001_ $$aGonzalez-Menendez, Irene$$b5
000302851 7001_ $$ade Fend, Leticia Quintanilla$$b6
000302851 7001_ $$aPuarr, Amrit Kaur$$b7
000302851 7001_ $$aArkell, Ruth Maree$$b8
000302851 7001_ $$aEnders, Anselm$$b9
000302851 7001_ $$aHoenig, Manfred$$b10
000302851 7001_ $$aSchrezenmeier, Hubert$$b11
000302851 7001_ $$aFehling, Hans Joerg$$b12
000302851 7001_ $$aSchwarz, Klaus$$b13
000302851 7001_ $$aPannicke, Ulrich$$b14
000302851 773__ $$0PERI:(DE-600)1491907-2$$a10.1002/eji.202451466$$gVol. 55, no. 7, p. e51466$$n7$$pe51466$$tEuropean journal of immunology$$v55$$x0014-2980$$y2025
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