In 2013, Roger Williams’s group in the LMB’s PNAC Division published findings from a study conducted with researchers at the University of Cambridge, the Babraham Institute and clinicians from Addenbrooke’s Hospital. Together, the team identified a rare genetic mutation which causes a condition now known as Activated PI3K-d Syndrome (APDS), which weakens the immune system and increases vulnerability to severe lung infections. Recently, Mary Catchpole received the first approved treatment for APDS, leniolisib, at Addenbrooke’s Hospital. More…
Home > LMB In The News > First patient treated for APDS, a rare inherited disorder identified by collaborative Cambridge team including Roger Williams’s group