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Allogeneic hematopoietic cell transplantation in the management of GATA2 deficiency and pulmonary alveolar proteinosis
- Source :
- Clinical immunology (Orlando, Fla.), 218:108522. Academic Press Inc.
- Publication Year :
- 2020
-
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.
- Subjects :
- Adult
Male
0301 basic medicine
Adolescent
Immunology
Disease course
Young Adult
03 medical and health sciences
0302 clinical medicine
GATA2 deficiency
medicine
Humans
Immunology and Allergy
610 Medicine & health
Transcription factor
GATA2 Deficiency
Hematopoietic cell
business.industry
GATA2
Hematopoietic Stem Cell Transplantation
Infant, Newborn
Middle Aged
Allografts
medicine.disease
GATA2 Transcription Factor
Transplantation
Haematopoiesis
030104 developmental biology
Mutation
Allogeneic hematopoietic stem cell transplantation
Female
Pulmonary alveolar proteinosis
business
030215 immunology
Subjects
Details
- Language :
- English
- ISSN :
- 15216616
- Database :
- OpenAIRE
- Journal :
- Clinical immunology (Orlando, Fla.), 218:108522. Academic Press Inc.
- Accession number :
- edsair.doi.dedup.....a25b383f84f7d92e72c67a8ae540fdbf