Researcher looking through microscope
14 August 2015
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Melbourne medical researchers are at the forefront of an international collaboration to uncover a new genetic cause of primary immune deficiency in a Melbourne family.

The breakthrough, led by a team at the Royal Melbourne Hospital and the Walter and Eliza Hall Institute, identifying a new gene affecting the cellular pathway NFkappa B1, was discovered in families from Australia, The Netherlands, Germany and New Zealand.

The Royal Melbourne Hospital’s Director of Immunology and Allergy and Professor at the University of Melbourne, Jo Douglass, said this exciting discovery will lead to improved diagnosis of Common Variable Immune Deficiency (CVID).

“Patients with Primary Immune Deficiencies require life-long treatment for their condition, usually administration of antibody treatment to supplement their immune system,” Professor Douglass said.

The findings, to be published today in the American Journal of Human Genetics, results from an international collaboration studying families with CVID, one of the most common forms of Primary Immune Deficiency.

These patients suffer recurrent health problems, despite lifelong replacement antibody therapy; and may develop other serious diseases, such as autoimmune disease and cancer more frequently than the healthy population, significantly reducing their quality of life and life expectancy.

Walter and Eliza Hall Institute researcher, Dr Vanessa Bryant, said the discovery involved working with Professor Bodo Grimbacher in Freiburg and Professor Rohan Ameratunga in Auckland, to identify a new genetic aetiology of CVID.

“Accurate molecular diagnosis will have great impact on management and treatment of immune disorders and their complications,” Dr Bryant said.

“We sequence protein-encoding regions of the genome in patients with primary immunodeficiency, which allows the effective analysis of the part of the genome most frequently affected by disease-causing mutations. These genetic-based diagnoses will guide personalised targeted therapies in the future.”

Dr Charlotte Slade, Clinical Immunologist at The Royal Melbourne Hospital and researcher at the Walter and Eliza Hall Institute, said this critical discovery came just in time for the Melbourne family.

“We discovered the mother and daughter were both carriers of the mutated gene,” Dr Slade said.

“More importantly, the daughter is now in the last trimester of pregnancy and our discovery allowed us to start her on antibody treatment to help her continue with a healthy pregnancy.

“We are now one step closer to finding new treatments for the condition, which will be life changing for the 1:10,000 people whose immune system cannot defend the body from infections.”

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