New genetic cause of boy in the bubble syndrome

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 Centre, The Netherlands, have now identified a new genetic cause of SCID characterised 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...

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