GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner.
Br J Haematol
; 188(5): 768-773, 2020 03.
Article
en En
| MEDLINE
| ID: mdl-31710708
ABSTRACT
GATA2 deficiency, first described in 2011, is a bone marrow failure disorder resulting in a complex haematological and immunodeficiency syndrome characterised by cytopenias, severe infections, myelodysplasia and leukaemia. The only curative treatment is allogeneic haematopoietic stem cell transplantation (HSCT). Although knowledge on this syndrome has greatly expanded, in clinical practice many challenges remain. In particular, guidelines on optimal donor and stem cell source and conditioning regimens regarding HSCT are lacking. Additionally, genetic analysis of GATA2 is technically cumbersome and could easily result in false-negative results. With this report, we wish to raise awareness of these pitfalls amongst physicians dealing with haematological malignancies and primary immunodeficiencies.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trasplante de Células Madre Hematopoyéticas
/
Deficiencia GATA2
Tipo de estudio:
Guideline
Límite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Br J Haematol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Bélgica