Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Blood. 2020 Aug 20;136(8):1002-1005. doi: 10.1182/blood.2020005538.

Authors

Luiz Fernando B Catto¹, Gustavo Borges¹, André L Pinto¹, Diego V Clé¹, Fernando Chahud², Barbara A Santana¹, Flavia S Donaires¹, Rodrigo T Calado¹

Affiliations

¹ Department of Medical Imaging, Hematology, and Clinical Oncology, and.
² Department of Pathology and Forensic Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, Brazil.

PMID: 32556109
DOI: 10.1182/blood.2020005538

No abstract available

Publication types

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

MeSH terms

Adult
Asymptomatic Diseases
Codon, Nonsense / genetics
GATA2 Deficiency / blood
GATA2 Deficiency / diagnosis
GATA2 Deficiency / genetics*
GATA2 Transcription Factor / genetics*
Genes, Recessive / genetics*
Germ-Line Mutation
Hematopoietic Stem Cells / metabolism*
Hematopoietic Stem Cells / pathology
Heterozygote
Humans
Male
Middle Aged
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Young Adult
Zinc Fingers / genetics

Substances

Codon, Nonsense
GATA2 Transcription Factor
GATA2 protein, human