• Clin. Immunol. · Sep 2020

    Case Reports

    Allogeneic hematopoietic cell transplantation in the management of GATA2 deficiency and pulmonary alveolar proteinosis.

    • Yannouck F van Lier, Godelieve J de Bree, René E Jonkers, RoelofsJoris J T HJJTHDepartment of Pathology, Amsterdam UMC location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands., Ineke J M Ten Berge, Caroline E Rutten, Erfan Nur, Taco W Kuijpers, Mette D Hazenberg, and Sacha S Zeerleder.
    • Department of Experimental Immunology, Amsterdam Infection & Immunity Institute (AII), Cancer Center Amsterdam (CCA), Amsterdam UMC location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands; Department of Hematology, Amsterdam UMC location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands.
    • Clin. Immunol. 2020 Sep 1; 218: 108522.

    AbstractHuman hematopoiesis is critically dependent on the transcription factor GATA2. Patients with GATA2 deficiency typically present with myelodysplastic syndrome, reduced numbers of monocytes, NK cells and B cells, and/or opportunistic infections. Here, we present two families that harbor distinct GATA2 mutations with highly variable onset and course of disease. We discuss the use of allogeneic hematopoietic cell transplantation in these patients, especially as treatment for pulmonary alveolar proteinosis.Copyright © 2020 Elsevier Inc. All rights reserved.

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