A new genetic cause of boy in the bubble syndrome has been discovered, scientists have announced.
A report published in the Journal of Clinical Investigation looked at the causes of severe combined immunodeficiency (SCID), an inherited disease which leaves individuals lacking one or more type of immune cell, making them extremely susceptible to infections.
The new genetic cause is characterised by a lack of T cells and B cells (T-B-SCID), researchers claim after identifying a patient with T-B-SCID who has a mutation in the gene DNA-PKcs.
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.
'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 claim.
They 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 who have normal DNA-PKcs kinase activity.