The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
Open accessAbstract
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.
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Metadata
- Authors
- Dickinson, R. E., Griffin, H., Bigley, V., Reynard, L. N., Hussain, R., Haniffa, M., Lakey, J. H., Rahman, T., Wang, X.-N., McGovern, N., Pagan, S., Cookson, S., McDonald, D., Chua, I., Wallis, J., Cant, A., Wright, M., Keavney, B., Chinnery, P. F., Loughlin, J., Hambleton, S., Santibanez-Koref, M., & Collin, M.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2011-09-08
- Volume
- 118
- Issue
- 10
- Pages
- 2656-2658
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2045264636
- Cited by
- 437
- References
- 20
- FWCI
- 12.76
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Dickinson, R. E., Griffin, H., Bigley, V., Reynard, L. N., Hussain, R., Haniffa, M., Lakey, J. H., Rahman, T., Wang, X.-N., McGovern, N., Pagan, S., Cookson, S., McDonald, D., Chua, I., Wallis, J., Cant, A., Wright, M., Keavney, B., Chinnery, P. F., . . . Collin, M. (2011). Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. https://doi.org/10.1182/blood-2011-06-360313
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