Article
Allogeneic hematopoietic cell transplantation in the management of GATA2 deficiency and pulmonary alveolar proteinosis.
Clinical immunology (Orlando, Fla.) - 1 Sept 2020
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
Abstract excerpt
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...
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