Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS

被引：19

作者：

Saida, Satoshi ^{[1
]}

Umeda, Katsutsugu ^{[1
]}

Yasumi, Takahiro ^{[1
]}

Matsumoto, Akane ^{[1
]}

Kato, Itaru ^{[1
]}

Hiramatsu, Hidefumi ^{[1
]}

Ohara, Osamu ^{[2
]}

Heike, Toshio ^{[1
]}

Adachi, Souichi ^{[3
]}

机构：

[1] Kyoto Univ, Grad Sch Med, Dept Pediat, Kyoto, Japan

[2] Kazusa DNA Res Inst, Dept Human Genome Res, Kisarazu, Japan

[3] Kyoto Univ, Grad Sch Med, Inst Dept Human Hlth Sci, Kyoto, Japan

来源：

PEDIATRIC TRANSPLANTATION | 2016年 / 20卷 / 02期

关键词：

GATA2; Emberger; MonoMAC; transplantation; immunodeficiency; ACUTE MYELOID-LEUKEMIA; AUTOSOMAL-DOMINANT; SPORADIC MONOCYTOPENIA; DENDRITIC CELL; MUTATIONS; LYMPHEDEMA; MYELODYSPLASIA;

D O I：

10.1111/petr.12667

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：333 / 336

页数：4

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