title: 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.
authors.affiliation: Department of Pediatrics and Blood and Marrow transplantation, Matsushita Memorial Hospital, 5-55, Sotojima-cho, Moriguchi 570-8540, Japan. ishida.hiroyuki002@jp.panasonic.com
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ishida
authors.forename: Kosuke
authors.initials: K
authors.lastname: Imai
authors.forename: Kenichi
authors.initials: K
authors.lastname: Honma
authors.forename: Shin-Ichi
authors.initials: S
authors.lastname: Tamura
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Imamura
authors.forename: Masafumi
authors.initials: M
authors.lastname: Ito
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
mesh_terms: D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D008209:Lymphedema / Q000175:diagnosis* / Q000235:genetics; D020125:Mutation, Missense; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human; D005819:Genetic Markers