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Eur J Pediatr. 2012 Aug;171(8):1273-6. doi: 10.1007/s00431-012-1715-7. Epub 2012 Mar 21.

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

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  • 1Department of Pediatrics and Blood and Marrow transplantation, Matsushita Memorial Hospital, 5-55, Sotojima-cho, Moriguchi 570-8540, Japan. ishida.hiroyuki002@jp.panasonic.com

Abstract

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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