Primary immunodeficiency study

Primary immunodeficiency study

Sample test tubes in ice
Our researchers are looking for people with certain primary immunodeficiencies to help with our studies of how these conditions occur.
If you are aged between 18 and 80 and have been diagnosed with common variable immunodeficiency (CVID) or X-linked agammaglobulinemia (XLA), we invite you to contact our research team.

What is immunodeficiency?

Immunodeficiencies are a broad class of conditions where one or more components of the immune system are missing. In some people, changes in genes cause immunodeficiency. The most common inherited immunodeficiency in Australia and worldwide is common variable immunodeficiency (CVID).

Finding the cause of primary immunodeficiencies

Researchers at the Walter and Eliza Hall Institute and The Royal Melbourne Hospital want to understand what has gone wrong in the immune systems of people with common variable immunodeficiency (CVID). To do this, we need to study the genetic material (DNA) of people with CVID, as well as people with another immune deficiency called X-linked agammaglobulinemia (XLA).

Help our research team

If you are aged between 18 and 80 and have been diagnosed with CVID or XLA, we invite you to contact our research team.

Study participants will be asked to donate one to three small (20mL) samples of blood, taken by a trained health professional. We will use this blood to discover how your immune cells function and whether you have particular gene changes that could contribute to immunodeficiency.

In some cases we would like the opportunity to compare immune cell and gene changes between people with CVID and their relatives who do not have this condition. We hope these studies will uncover the genetic changes that cause CVID.

What is the benefit of this study?

This study aims to uncover the genetic and immune changes that cause CVID. Understanding the disease better is a first step to better diagnosis and disease management.

Finding out the genetic changes that cause CVID could lead to new genetic tests that make it easier for physicians to diagnose the disease in people with CVID-like symptoms. It will also help to identify the risk of developing CVID that is carried by their family members, including children.

Ethics and confidentiality

All information gained in the study will be treated with strict confidentiality. This study has been approved by the Melbourne Health and Walter and Eliza Hall Institute Human Research Ethics Committees, and fully informed consent will be obtained from all research participants. All samples will be taken at The Royal Melbourne Hospital, Parkville, Victoria.

For more information about the study

Professor Jo Douglass
Unit head, Royal Melbourne Hospital Immunology and Allergy Unit
Phone: +61 3 9342 7191

Dr Charlotte Slade
Email: or
Phone: +61 3 9342 7191

Dr Vanessa Bryant
Phone: +61 3 9344 2609