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When the Immune System Forgets

Source: iStockphoto

Source: iStockphoto

By Hsei Di Law

A mutation is revealing the basis behind an immunodeficiency syndrome that stifles the antibody response to vaccination.

The full text of this article can be purchased from Informit.

David Vetter’s life inspired the 1976 telemovie The Boy in the Plastic Bubble. Suffering from profound immunodeficiency, David was forced to live in a sterile plastic bubble for the entirety of his 12 years of life. The immense public attention he attracted brought this group of diseases under the spotlight in the late 1970s.

Immunodeficiency leaves one extremely vulnerable to infections due to missing elements of the immune system or their failure to function properly. A variant of immunodeficiency disorders known as DOCK8 syndrome occurs when both of the principal immune cell types, the B and T cells, are defective. Patients with this disease show the typical signs of combined B and T cell immunodeficiency: a range of health issues including repeated bacterial and viral skin infections, eczema, allergies and cancer. Like many immunodeficiencies, DOCK8 syndrome is a genetic disorder caused by a mutation in the gene known as “dedicator of cytokinesis 8”, or Dock8.

Our team at the John Curtin School of Medical Research is trying to understand this disease by studying a model of DOCK8 syndrome in mice. Because humans and mice are so similar at a genetic level, mice act as a model for what happens in humans, thus serving as a platform for researchers to look closely at the mechanisms of disease at the cellular and molecular levels. They also provide an...

The full text of this article can be purchased from Informit.