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

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. •GATA2 deficiency is a multifaceted disease and information on the mutation type can be helpful to appraise its impact.•Allogeneic HCT can improve PAP and should be considered at an early stage in case of organ damage.•Lung function data pre and post allogeneic HCT are needed to define the critical window for allogeneic HCT in PAP treatment•Pre-existent GATA2-associated inflammatory or infectious complications are likely to aggravate shortly after allogeneic HCT.