New Genetic Cause Of Boy In The Bubble Syndrome
Wednesday, December 17, 2008 - 23:28
in Health & Medicine
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.