People who succumb to respiratory infections and suffer from lung damage may be suffering from a rare genetic disease, researchers revealed today.
The disease can help explain immune system weakness in a group of patients who have puzzled doctors up to now.
The discovery came from research into people with immunodeficiency.
Researchers at Cambridge University, UK, found a unique genetic mutation affecting 17 patients, who suffered from severe respiratory infections and were vulnerable to lung damage.
The disease has been named Activated PI3K Syndrome. PI3K is an enzyme which should regulate immune cells – but in patients with the syndrome it is active constantly and interferes with the ability of the immune system to protect against infection.
The findings were reported in Science last night.
Drugs have already been developed to tackle the enzyme and are currently being tested as a treatment for leukaemia. It could mean a treat for the genetic disease is already available.
Researcher Dr Sergey Nejentsev, from Cambridge University, said: “Patients with this mutation have a defect in the immune cells, so their protection from infections is weak and inefficient."
He added: “A simple genetic test can tell if the patient has the mutation or not. We believe that now many more APDS patients will be identified all over the world.”
Fellow researcher Alison Condliffe said: “We are very excited by the prospect of using these drugs to help patients with APDS. We believe that they may be able to restore functions of immune cells, thereby reducing infections and preventing lung damage.”
Phosphoinositide 3-Kinase Gene Mutation Predisposes to Respiratory Infection and Airway Damage. Science 18 October 2013
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