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Lookup NU author(s): Dr Rachel Dickinson, Dr Helen GriffinORCiD, Dr Venetia BigleyORCiD, Dr Louise Reynard, Raf Hussain, Professor Muzlifah Haniffa, Professor Jeremy LakeyORCiD, Dr Thahira Rahman, Dr Xiao WangORCiD, Dr Naomi McGovern, Sarah Pagan, Dr Sharon Cookson, Dr David McDonald, Dr Jonathan Wallis, Professor Andrew Cant, Professor Bernard Keavney, Professor Patrick Chinnery, Professor John LoughlinORCiD, Professor Sophie Hambleton, Dr Mauro Santibanez Koref, Professor Matthew CollinORCiD
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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.
Author(s): Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M
Publication type: Article
Publication status: Published
Journal: Blood
Year: 2011
Volume: 118
Issue: 10
Pages: 2656-2658
Print publication date: 15/07/2011
ISSN (print): 0006-4971
ISSN (electronic): 1528-0020
Publisher: American Society of Hematology
URL: http://dx.doi.org/10.1182/blood-2011-06-360313
DOI: 10.1182/blood-2011-06-360313
PubMed id: 21765025
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