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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Hämatologie (Erwachsene)

UniBE Contributor:

Zeerleder, Sacha Sergio

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1521-6616

Publisher:

Elsevier

Language:

English

Submitter:

Pierrette Durand Lüthi

Date Deposited:

21 Sep 2020 15:51

Last Modified:

27 Sep 2020 02:51

Publisher DOI:

10.1016/j.clim.2020.108522

PubMed ID:

32682923

Uncontrolled Keywords:

Allogeneic hematopoietic stem cell transplantation GATA2 deficiency Pulmonary alveolar proteinosis

BORIS DOI:

10.7892/boris.146351

URI:

https://boris.unibe.ch/id/eprint/146351

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