Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

@article{Dickinson2011ExomeSI,
  title={Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.},
  author={Rachel Emma Dickinson and Helen R. Griffin and Venetia Bigley and Louise N. Reynard and Rafiqul I Hussain and Muzlifah Haniffa and Jeremy H Lakey and Thahira Rahman and Xiao-nong Wang and Naomi McGovern and Sarah Pagan and Sharon Cookson and David McDonald and Ignatius Chua and Jonathan Wallis and Andrew Cant and Michael Scott Wright and Bernard D Keavney and Patrick F. Chinnery and John Loughlin and Sophie Hambleton and Mauro F. Santibanez-Koref and Matthew Collin},
  journal={Blood},
  year={2011},
  volume={118 10},
  pages={2656-8}
}
The human syndrome of dendritic cell, monocyte, B and natural killer lymphoid deficiency presents as a sporadic or autosomal dominant trait causing susceptibility to mycobacterial and other infections, predisposition to myelodysplasia and leukemia, and, in some cases, pulmonary alveolar proteinosis. Seeking a genetic cause, we sequenced the exomes of 4 unrelated persons, 3 with sporadic disease, looking for novel, heterozygous, and probably deleterious variants. A number of genes harbored novel… CONTINUE READING
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The human syndrome of dendritic cell , monocyte , B and natural killer lymphoid deficiency presents as a sporadic or autosomal dominant trait causing susceptibility to mycobacterial and other infections , predisposition to myelodysplasia and leukemia , and , in some cases , pulmonary alveolar proteinosis .
The human syndrome of dendritic cell , monocyte , B and natural killer lymphoid deficiency presents as a sporadic or autosomal dominant trait causing susceptibility to mycobacterial and other infections , predisposition to myelodysplasia and leukemia , and , in some cases , pulmonary alveolar proteinosis .
The human syndrome of dendritic cell , monocyte , B and natural killer lymphoid deficiency presents as a sporadic or autosomal dominant trait causing susceptibility to mycobacterial and other infections , predisposition to myelodysplasia and leukemia , and , in some cases , pulmonary alveolar proteinosis .
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