Article
Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.
Pediatric transplantation - 1 Mar 2016
Saida Satoshi, Umeda Katsutsugu, Yasumi Takahiro, Matsumoto Akane, Kato Itaru, Hiramatsu Hidefumi, Ohara Osamu, Heike Toshio, Adachi Souichi
Abstract excerpt
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...
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