Our immunodeficiency research

Our immunodeficiency research

Professor Stuart Tangye, Dr Elissa Deenick, and Dr Cindy Ma.

Using whole-genome sequencing to search deeply into our DNA has led to the discovery that all disease is linked to genetic mutations. Instead of treating the symptoms of the disease, we can now aim to treat the mutations causing them. 

Whole-genome sequencing gives the Immunology Division research teams the unparalleled ability to test families with a genetic risk for immunological disorders, vastly increasing our understanding of the underlying disease, and leading to better prevention and more effective personalised medicine. You can help by donating to our breakthrough research

Key areas of investigation

Prof Stuart Tangye
Prof Stuart Tangye

Rebuilding the body's defences

Primary Immunodeficiencies (PIDs) are relatively rare diseases with potentially devastating consequences. They are caused by single genetic mutations that lead to a failure of the body’s immune system to respond to microbial, viral or fungal attack.

'The goal of our research is to determine how specific gene defects in B cells and T cells result in the clinical features of various human PIDs.' Professor Stuart Tangye

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New treatments

The immune response is also what underlies the success of most available vaccines, which create an immunological ‘memory’ so when we encounter the virus or bacteria that we have been vaccinated against our responses are recalled and strengthened.

'As well as being highly susceptible to infections, people with PID have problems generating immune responses following vaccination, increasing their likelihood of suffering from infections that can be prevented by vaccines.' Professor Stuart Tangye 

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Anti-cancer vaccines

Epstein Barr virus (EBV), a type of herpes virus, infects more than 90% of the population. It is often asymptomatic, however around 15-20% of infected individuals will develop glandular fever.

“An error in one gene can give a heightened susceptibility to a specific virus or bacteria. There are some boys with a PID called X-linked lymphoproliferative (XLP) disease, who have a very poor immune response to EBV.”

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National and International Collaborations

  • The Canberra Hospital, Canberra, Australia
  • Children’s Hospital Boston, Harvard Medical School, Massachusetts, USA
  • Children’s Hospital, Westmead, Sydney, Australia
  • Concord General Repatriation Hospital, Sydney, Australia
  • Hadassah-Hebrew University Medical Centre, Jerusalem, Israel
  • Hiroshima University, Hiroshima, Japan
  • Karolinska Institute, Stockholm Sweden
  • Liverpool Hospital, Sydney, Australia
  • Medical University of Vienna, Vienna, Austria
  • National Institutes of Health, Bethesda, Maryland, USA
  • Necker Hospital for Sick Children, Paris, France
  • Princess Margaret Hospital, Perth, Australia
  • Rockefeller University, New York, New York, USA
  • Royal Children’s Hospital, Brisbane, Australia
  • Royal Children’s Hospital, Melbourne, Australia
  • Royal Prince Alfred Hospital, Sydney, Australia
  • Starship Children’s Hospital, Auckland, New Zealand
  • Sydney Children’s Hospital, Sydney, Australia
  • University of Manchester, Manchester, UK
  • University Medical Centre Freiburg, Freiburg, Germany
  • Westmead Hospital, Sydney, Australia.