Oral Presentation The Australasian Society for Immunology 2017 Annual Scientific Meeting

The function of immune cells in patients with a mutation in the DOCK8 gene before and after bone marrow transplant (#104)

Bethany A Pillay 1 2 , Danielle T Avery 1 , Jane Peake 3 , Joanee M Smart 4 , Therese Cole 4 , Sharon Choo 4 , Damien Chan 5 , Paul Gray 6 , Melanie Wong 6 , Gulbu Uzel 7 , Alexandra Freeman 7 , Helen C Su 8 , Stuart G Tangye 1 2 , Cindy S Ma 1 2
  1. The Garvan Institute of Medical Research, Darlinghurst, NSW, Australia
  2. St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia
  3. Lady Cilanto Children’s Hospital, Brisbane, QLD, Australia
  4. Royal Children’s Hosptial, Melbourne, VIC, Australia
  5. Women and Children’s Hospital, Adelaide, SA, Australia
  6. Sydney Children’s Hospital Network, Sydney, NSW, Australia
  7. Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, MD, USA
  8. Laboratory of Host Diseases, NIAID, NIH, Bethesda, MD, USA


There are many players in the immune system who all work together to effectively fight a range of threats including bacteria, viruses and parasites. Because of this cooperation between different types of cells it can be difficult to determine exactly what has gone wrong for people with defective immune systems and what is causing the symptoms they experience.

We have looked closely at a range of cells in patients with a mutation in the DOCK8 gene. These patients commonly suffer with recurrent viral, bacterial and fungal infections as well as allergic conditions such as eczema and food allergies. We have tested, in a variety of ways, how well certain types of their immune cells function so as to make associations between symptoms and dysfunctional cell types.

To gain an even better idea of which cellular defects cause which symptoms, we have investigated the same cell types in patients who have received a bone marrow transplant. This transplant involves killing the immune cells that are already present in the person and transferring bone marrow from a healthy donor which can then produce new healthy immune cells in the patient’s body. We know from previous reports that this treatment is mostly effective but that some symptoms can still remain in patients, hence, we have looked at which cells types have recovered function and which have not to explain this effect.

In this way we can correlate symptoms experienced by patients to the function of different types of immune cells and better understand which components in the immune system are responsible for which defence mechanisms.