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

Rachel Emma Dickinson, Helen Griffin, Venetia Bigley, Louise N. Reynard, Rafiqul Hussain, Muzlifah Haniffa, Jeremy H. Lakey, Thahira Rahman, Xiao Nong Wang, Naomi McGovern, Sarah Pagan, Sharon Cookson, David McDonald, Ignatius Chua, Jonathan Wallis, Andrew Cant, Michael Wright, Bernard Keavney, Patrick F. Chinnery, John LoughlinSophie Hambleton, Mauro Santibanez-Koref, Matthew Collin

    Research output: Contribution to journalArticlepeer-review


    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.Anumber of genes harbored novel variants in person, but only one gene, GATA2, was mutated in all 4 persons. Each person harbored a different mutation, but all were predicted to be highly deleterious and to cause loss or mutation of the C-terminal zinc finger domain. Because GATA2 is the only common mutated gene in 4 unrelated persons, it is highly probable to be the cause of dendritic cell, monocyte, B, and natural killer lymphoid deficiency. This disorder therefore constitutes a new genetic form of heritable immunodeficiency and leukemic transformation. © 2011 by The American Society of Hematology.
    Original languageEnglish
    Pages (from-to)2656-2658
    Number of pages2
    Issue number10
    Publication statusPublished - 8 Sept 2011


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