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

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.

journal_name

Eur J Pediatr

authors

Ishida H,Imai K,Honma K,Tamura S,Imamura T,Ito M,Nonoyama S

doi

10.1007/s00431-012-1715-7

subject

Has Abstract

pub_date

2012-08-01 00:00:00

pages

1273-6

issue

8

eissn

0340-6199

issn

1432-1076

journal_volume

171

pub_type

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