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- PMID: 21765025
- UKPMCID: 21765025
- 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.
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
Blood. 2011;118(10):2656-8.
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Full-text held externally
- PMID: 21765025
- UKPMCID: 21765025
- DOI: 10.1182/blood-2011-06-360313
Abstract
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 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.
Bibliographic metadata
- 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