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; Joris J T H Roelofs; Ineke J M Ten Berge; Caroline E Rutten; Erfan Nur; Taco W Kuijpers; Mette D Hazenberg; Sacha S Zeerleder

doi:10.1016/j.clim.2020.108522

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

Clin Immunol. 2020 Sep:218:108522. doi: 10.1016/j.clim.2020.108522. Epub 2020 Jul 16.

Authors

Affiliations

¹ 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.
² Department of Infectious Diseases, Amsterdam UMC Location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands.
³ Department of Respiratory Medicine, Amsterdam UMC location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands.
⁴ Department of Pathology, Amsterdam UMC location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands.
⁵ 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 Internal Medicine, Amsterdam UMC location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands.
⁶ Department of Hematology, Amsterdam UMC location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands.
⁷ Emma Children's Hospital, Amsterdam UMC location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands; Department of Blood Cell Research, Sanquin Research, 1066 CX Amsterdam, The Netherlands.
⁸ Department of Hematology, Amsterdam UMC location AMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands; Department of Hematopoiesis, Sanquin Research, 1066 CX Amsterdam, The Netherlands.
⁹ Department of Immunopathology, Sanquin Research, 1066 CX Amsterdam, The Netherlands; Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Switzerland and Department for BioMedical Research, University of Bern, 3010 Bern, Switzerland. Electronic address: [email protected].

PMID: 32682923
DOI: 10.1016/j.clim.2020.108522

Abstract

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.

Keywords: Allogeneic hematopoietic stem cell transplantation; GATA2 deficiency; Pulmonary alveolar proteinosis.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Allografts
Female
GATA2 Deficiency / therapy*
GATA2 Transcription Factor / genetics
Hematopoietic Stem Cell Transplantation*
Humans
Infant, Newborn
Male
Middle Aged
Mutation
Pulmonary Alveolar Proteinosis / therapy*
Young Adult

Substances

GATA2 Transcription Factor
GATA2 protein, human