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New Genetic Cause Of Boy In The Bubble Syndrome

Date:
December 18, 2008
Source:
Journal of Clinical Investigation
Summary:
Severe combined immunodeficiency (SCID) is an inherited disease sometimes known as "boy in the bubble syndrome," because the patient lacks one or more type of immune cell, making them very susceptible to infections. Researchers have now identified a new genetic cause of SCID characterized by a lack of T cells and B cells. Specifically, they have identified a patient who has a mutation in the gene DNA-PKcs.

Severe combined immunodeficiency (SCID) is an inherited disease sometimes known as 'Boy in the bubble syndrome', because the patient lacks one or more type of immune cell, making them very susceptible to infections.

Dik van Gent and colleagues, at Erasmus Medical Center, The Netherlands, have now identified a new genetic cause of SCID characterized by a lack of T cells and B cells (T–B– SCID). Specifically, they identified a patient with T–B– SCID who has a mutation in the gene DNA-PKcs.

Their study appears online Dec. 15 in the Journal of Clinical Investigation.

Further analysis revealed the reason that the mutant DNA-PKcs protein generated as a result of the DNA-PKcs genetic mutation caused SCID: it was unable to activate another protein (known as Artemis) that is essential for the development of T cells and B cells.

Importantly, the mutant DNA-PKcs protein retained the ability to perform one of the main functions of normal DNA-PKcs protein (a process known as kinase activity). The authors therefore conclude that clinicians with patients who have T–B– SCID should consider the possibility that mutations in the gene DNA-PKcs might be the cause of disease, even in those individuals who have normal DNA-PKcs kinase activity.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. van der Burg et al. A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining. Journal of Clinical Investigation, December 16, 2008; DOI: 10.1172/JCI37141

Cite This Page:

Journal of Clinical Investigation. "New Genetic Cause Of Boy In The Bubble Syndrome." ScienceDaily. ScienceDaily, 18 December 2008. <www.sciencedaily.com/releases/2008/12/081215183951.htm>.
Journal of Clinical Investigation. (2008, December 18). New Genetic Cause Of Boy In The Bubble Syndrome. ScienceDaily. Retrieved July 30, 2014 from www.sciencedaily.com/releases/2008/12/081215183951.htm
Journal of Clinical Investigation. "New Genetic Cause Of Boy In The Bubble Syndrome." ScienceDaily. www.sciencedaily.com/releases/2008/12/081215183951.htm (accessed July 30, 2014).

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