Allogeneic hematopoietic cell transplantation in the management of GATA2 deficiency and pulmonary alveolar proteinosis.
Clin Immunol
; 218: 108522, 2020 09.
Article
em En
| MEDLINE
| ID: mdl-32682923
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.
Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Proteinose Alveolar Pulmonar
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Transplante de Células-Tronco Hematopoéticas
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Deficiência de GATA2
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
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Middle aged
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Newborn
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article