TY - JOUR
T1 - Allogeneic hematopoietic cell transplantation in the management of GATA2 deficiency and pulmonary alveolar proteinosis
AU - van Lier, Yannouck F.
AU - de Bree, Godelieve J.
AU - Jonkers, René E.
AU - Roelofs, Joris J. T. H.
AU - ten Berge, Ineke J. M.
AU - Rutten, Caroline E.
AU - Nur, Erfan
AU - Kuijpers, Taco W.
AU - Hazenberg, Mette D.
AU - Zeerleder, Sacha S.
PY - 2020/9/1
Y1 - 2020/9/1
N2 - 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.
AB - 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.
KW - Allogeneic hematopoietic stem cell transplantation
KW - GATA2 deficiency
KW - Pulmonary alveolar proteinosis
UR - http://www.scopus.com/inward/record.url?scp=85088390364&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.clim.2020.108522
DO - https://doi.org/10.1016/j.clim.2020.108522
M3 - Article
C2 - 32682923
SN - 1521-6616
VL - 218
JO - Clinical immunology (Orlando, Fla.)
JF - Clinical immunology (Orlando, Fla.)
M1 - 108522
ER -