Humoral deficiency in a novel GATA2 mutation: A new clinical presentation successfully treated with hematopoietic stem cell transplantation

Pediatr Blood Cancer. 2020 Sep;67(9):e28374. doi: 10.1002/pbc.28374. Epub 2020 Jun 18.

Authors

Júlia Plentz Portich¹, Antonio Condino Neto², Gustavo Adolpho Moreira Faulhaber³

Affiliations

¹ Haematology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
² Institute of Biomedical Sciences, University of Sao Paulo, São Paulo, Brazil.
³ Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

PMID: 32558139
DOI: 10.1002/pbc.28374

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Child
Chromosome Deletion*
Chromosomes, Human, Pair 7 / genetics*
Female
GATA2 Transcription Factor / genetics*
Hematopoietic Stem Cell Transplantation*
Humans
IgG Deficiency* / genetics
IgG Deficiency* / pathology
IgG Deficiency* / therapy

Substances

GATA2 Transcription Factor
GATA2 protein, human