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

doi:10.1182/blood-2011-06-360313

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

Blood - 8 Sept 2011

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

Abstract excerpt

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...

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Identifiers

PMID: 21765025
DOI: 10.1182/blood-2011-06-360313
PMCID: PMC5137783

Genes

GATA2

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Source receipt: pubmed, retrieved 7 Sept 2026.

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