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Improving the survival and clinical outcomes of patients with IFNAR1 deficiency in Oceania

AIFA CSL Behring Primary Immunodeficiency Clinical Research Grant 

Chief Investigator: Dr Kuang-Chih Hsiao, Starship Children's Hospital, The University of Auckland, New Zealand

Research Team: Dr Maia Brewerton (Auckland City Hospital), Dr Alberto Pinzon Charry (Queensland Children's Hospital), Dr Andrew Wood (Starship Blood and Cancer Centre), Dr See-Tarn Woon (LabPLUS) 

Dr Kuang Chih HsiaoEffective communication is crucial for our immune system to function normally. When a virus invades our body, our immune cells have to be able to receive warning signals communicated from other cells, so that they can respond promptly and efficiently to protect our body. When communication is disrupted, a person can get life-threatening or fatal viral infections. A genetic form of such communication disruption, affecting a crucial receptor of warning signals, is called IFNAR1 deficiency.

Although extremely rare globally, Dr Hsiao's team has found IFNAR1 deficiency to occur more commonly in the Pacific region. To date, doctors and nurses in New Zealand and Australia have diagnosed and looked after a small number of children affected by this rare condition. Despite the best medical care, 60% of these children affected by viral infection with excessive inflammation died.

They believe that the best way to help these children survive and have excellent quality of life is earlier diagnosis, avoidance of viruses where possible, and better diagnosis and treatment of viral infections when they do occur.

Dr Hsiao and his team want to find out which things help patients stay alive at 12 months after being diagnosed with IFNAR1 deficiency. In the meantime, through this project, they will provide doctors in the Oceanian region three important tools that we believe might help improve their patients’ chance of surviving: 1) educational resources to help doctors become better at spotting the warning signs of this condition, 2) more options to help diagnose this condition promptly, including a new, fast and accurate test we have developed, and 3) an evidence-based management guideline describing how to better protect patients against severe viral infections and treat excessive inflammation.

It is hoped that this project will ultimately lead to improved chances of survival for children who have IFNAR1 deficiency in the Oceanian region.