Scientists identify genetic disease linked with repeated lung infection

Scientists have discovered a rare genetic disease, which increases the chances of a person experiencing severe respiratory infections and lung damage.

The research, published in the journal Science, examined genetic information from individuals who are susceptible to infections. From this analysis, the team identified a unique genetic mutation in 17 patients that suffer from severe infections and who experience rapid lung damage.

The researchers found that the mutation increases the activity of an enzyme (called Phosphoinositide 3-Kinase δ (PI3Kδ)), which regulates the function of immune cells. If the mutation constantly activates the enzyme, it impairs the work of these immune cells, preventing them from responding to the infection. Consequently, patients with this mutation have severe and recurrent infections.

Lead author, Sergey Nejentsev, said: “Patients with this mutation have a defect in the immune cells, so their protection from infections is weak and inefficient. It is very important that doctors consider a possibility of this disease in their patients. A simple genetic test can tell if the patient has the mutation or not.”

Although the prevalence of the disease is not yet known, the scientists believe that it is relatively frequent compared to other diseases affecting the immune system and may underpin chronic lung disorders in a substantial fraction of patients.

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