title: Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.
abstract: A 13-yr-old boy bearing lymphedema and congenital deafness had distinct hematological abnormalities consisting of reduced monocytes, B cells, and dendritic cells in the peripheral blood as well as MDS with normal karyotype in the bone marrow. The patient was diagnosed with Emberger syndrome by sequencing of GATA2 DNA, and underwent RIST from an HLA-matched unrelated donor. Prompt engraftment and immunological reconstitution were observed without any severe RRT. As most patients with GATA2 anomaly died due to the development of AML or active infections, RIST could be a promising treatment option before progression of advanced MDS.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Saida
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Katsutsugu
authors.initials: K
authors.lastname: Umeda
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yasumi
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Akane
authors.initials: A
authors.lastname: Matsumoto
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Itaru
authors.initials: I
authors.lastname: Kato
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Hidefumi
authors.initials: H
authors.lastname: Hiramatsu
authors.affiliation: Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Heike
authors.affiliation: Institute Department of Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Souichi
authors.initials: S
authors.lastname: Adachi
mesh_terms: D000293:Adolescent; D000328:Adult; D001854:Bone Marrow Cells / Q000166:cytology; D018450:Disease Progression; D005260:Female; D050989:GATA2 Transcription Factor / Q000172:deficiency*; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007564:Japan; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000628:therapy*; D010372:Pediatrics; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D033581:Stem Cell Transplantation; D016896:Treatment Outcome
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human; D006680:HLA Antigens
keywords: Emberger; GATA2; MonoMAC; immunodeficiency; transplantation