Journal
BLOOD
Volume 118, Issue 10, Pages 2656-2658Publisher
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2011-06-360313
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Funding
- Leukaemia and Lymphoma Research, UK
- Medical Research Council, United Kingdom
- Wellcome Trust
- British Heart Foundation
- National Institute of Health Research Biomedical Research Center at Newcastle Hospitals NHS Foundation Trust
- Newcastle Health Care Charity
- Newcastle on Tyne Hospitals NHS Charity
- British Heart Foundation [RG/08/012/25941] Funding Source: researchfish
- Medical Research Council [G0701897, G0800358] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0509-10011] Funding Source: researchfish
- MRC [G0701897, G0800358] Funding Source: UKRI
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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. 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. (Blood. 2011;118(10):2656-2658)
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