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

  1. Lookup NU author(s)
  2. Dr Rachel Dickinson
  3. Dr Helen Griffin
  4. Dr Venetia Bigley
  5. Dr Louise Reynard
  6. Rafiqul Hussain
  7. Dr Muz Haniffa
  8. Professor Jeremy Lakey
  9. Dr Thahira Rahman
  10. Dr Xiao Wang
  11. Dr Naomi McGovern
  12. Sarah Pagan
  13. Dr Sharon Cookson
  14. Dr David McDonald
  15. Dr Jonathan Wallis
  16. Professor Andrew Cant
  17. Professor Bernard Keavney
  18. Professor Patrick Chinnery
  19. Professor John Loughlin
  20. Dr Sophie Hambleton
  21. Dr Mauro Santibanez Koref
  22. Professor Matthew Collin
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
JournalBlood
Year2011
Volume118
Issue10
Pages2656-2658
ISSN (print)0006-4971
ISSN (electronic)1528-0020
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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.
PublisherAmerican Society of Hematology
URLhttp://dx.doi.org/10.1182/blood-2011-06-360313
DOI10.1182/blood-2011-06-360313
PubMed id21765025
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