GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia
H Ishida, K Imai, K Honma, S Tamura… - European journal of …, 2012 - Springer
H Ishida, K Imai, K Honma, S Tamura, T Imamura, M Ito, S Nonoyama
European journal of pediatrics, 2012•SpringerA 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 …
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 …
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.
Springer