期刊
EUROPEAN JOURNAL OF PEDIATRICS
卷 171, 期 8, 页码 1273-1276出版社
SPRINGER
DOI: 10.1007/s00431-012-1715-7
关键词
Emberger syndrome; MonoMAC; Monocytopenia; B- and NK-cell lymphopenia; Immunodeficiency; Myelodysplasia
类别
资金
- Grants-in-Aid for Scientific Research [23591561, 23591547] Funding Source: KAKEN
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.
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