New light on Primary immunodeficiency – early detection, improved diagnostics and novel treatment can save lives.

Patients with primary immunodeficiency have been severely affected by the COVID-19 pandemic with an increased risk of infection and severe disease. During the pandemic, we changed our planned research and focused on helping this vulnerable group of patients. We applied our concept with screening, advanced diagnostics and targeted treatment and prevention.

This turned out to be very successful with direct benefit for patients but also led to scientific progress at the highest international level.

We have been able to identify three completely new immunodeficiency diseases that increase the susceptibility to COVID-19: TLR7 deficiency, IRF7 deficiency and autoantibodies to interferon-alpha.

We have also conducted a large clinical study where the effect of COVID-19 vaccine has been evaluated in patients with poor immune system.

Now we want to continue to develop the concept of screening inpatients to find additional patients with underlying immunodeficiency, deepen the molecular diagnostics and integrate novel methods in clinical practise, target our treatment and follow up vaccine responses and mechanisms over time.

The network that we have built up over the past two years will allow us to develop the clinical and translational research on immunodeficiency in the coming years.

We believe the new knowledge can be quickly implemented in clinical care and lead to patient benefit and scientific progress both in the short and long term. (1452 ch)