GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia

被引：40

作者：

Ishida, Hiroyuki ^{[1
]}

Imai, Kosuke ^{[2
]}

Honma, Kenichi ^{[3
]}

Tamura, Shin-ichi ^{[1
]}

Imamura, Toshihiko ^{[4
]}

Ito, Masafumi ^{[5
]}

Nonoyama, Shigeaki ^{[3
]}

机构：

[1] Matsushita Mem Hosp, Dept Pediat & Blood & Marrow Transplantat, Moriguchi, Osaka 5708540, Japan

[2] Tokyo Med & Dent Univ, Dept Pediat, Bunkyo Ku, Tokyo 1138510, Japan

[3] Natl Def Med Coll, Dept Pediat, Tokorozawa, Saitama 3598513, Japan

[4] Kyoto Prefectural Univ Med, Dept Pediat, Kamigyo Ku, Kyoto 6028566, Japan

[5] Japanese Red Cross Nagoya First Hosp, Dept Pathol, Nagoya, Aichi 4530046, Japan

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2012年 / 171卷 / 08期

关键词：

Emberger syndrome; MonoMAC; Monocytopenia; B- and NK-cell lymphopenia; Immunodeficiency; Myelodysplasia; ACUTE MYELOID-LEUKEMIA; AUTOSOMAL-DOMINANT; EMBERGER SYNDROME; MUTATIONS; WT1;

D O I：

10.1007/s00431-012-1715-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A Japanese patient presented with lymphedema, severe Varicella zoster, and Salmonella infection, recurrent respiratory infections, panniculitis, monocytopenia, B- and NK-cell lymphopenia, and myelodysplasia. The phenotype was a mixture of the monocytopenia and mycobacterial infection (MonoMAC) and Emberger syndromes. Sequencing of the GATA-2 cDNA revealed the heterozygous missense mutation 1187 G > A. This mutation resulted in the amino acid mutation Arg396Gln in the zinc fingers-2 domain, which is predicted to cause significant structural change and prevent a critical interaction with DNA. Functional analysis of the patient's GATA-2 mutation is required to understand the relationship between these distinctive syndromes.

引用

页码：1273 / 1276

页数：4

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