January 18, 2012
Peter Gregersen, MD
Investigators at the National Institutes of Health identified a genetic mutation in three unrelated families that causes a rare immune disorder, according to a study published in this month’s issue of the New England Journal of Medicine. The researchers named this immune disorder PLCG2-associated antibody deficiency and immune dysregulation, or PLAID. Its symptoms include immune deficiency, autoimmunity, inflammatory skin disorders and cold-induced hives, a condition known as cold urticaria.
The investigators discovered that the genetic mutation that causes PLAID occurs in an enzyme involved in the activation of immune cells. By identifying the genetic cause of PLAID, the medical community has a greater potential to discover management options for the condition’s symptoms, which are often severe and debilitating.
This study is a truly elegant example of the power of modern genetics and molecular biology to produce a deep and detailed understanding of human disease. Though the cold-induced hives are rare, identifying their cause has far-reaching implications, since it touches on basic immune and inflammatory mechanisms that will have applications to other more common diseases. In fact, the work actually suggests new approaches for drug development.