A University of Ottawa-led research team has published rigorous new research that advances a quest to understand a puzzling – and heartbreaking – ultra-rare disease that’s found almost exclusively in boys.
XLP-2 is a genetic X-linked lymphoproliferative disease first described in 2006. It typically has severe complications among patients who become infected with the Epstein-Barr virus, an exceedingly common virus that infects most people without problems in their teenage years or young adulthood. But when the few individuals with XLP-2 encounter the Epstein-Barr virus the experience is often fatal because it results in immunodeficiency – a derailing of the immune system.
The team aimed to examine how the inactivation of a protein-coding gene called XIAP triggers this immunodeficiency, according to senior author Dr. Subash Sad, whose uOttawa Faculty of Medicine lab studies the mechanisms that maintain a healthy immune system and prevent the development of inflammatory diseases.
How inactivation of XIAP results in immunodeficiency was not clear. It was speculated that an inactivation of XIAP impacts T cells directly. However, our work demonstrates that this is not entirely true. We showed inactivation of XIAP impacts the survival of T cells through direct and indirect effects which comprehensively result in a state of immunodeficiency.”
Dr. Subash Sad, cellular immunologist and professor in the Faculty’s Department of Biochemistry, Microbiology and Immunology
First author Parva Thakkar