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

van Lier, Yannouck F; de Bree, Godelieve J; Jonkers, René E; Roelofs, Joris J T H; Ten Berge, Ineke J M; Rutten, Caroline E; Nur, Erfan; Kuijpers, Taco W; Hazenberg, Mette D; Zeerleder, Sacha S. (2020). Allogeneic hematopoietic cell transplantation in the management of GATA2 deficiency and pulmonary alveolar proteinosis. Clinical immunology, 218(108522), p. 108522. Elsevier 10.1016/j.clim.2020.108522

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Human 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.

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