More Mutations Found for Primary Immunodeficiency, McGill University Study

Published: Apr 29, 2011

Med-Page Today -- Mutations in interferon regulatory factor 8 (IRF8) cause a primary immunodeficiency that manifests with disseminated infection from bacille Calmette–Guérin (BCG) vaccine, researchers found.

The novel, yet rare, class of primary immunodeficiency mutations is the first known to impact development of mononuclear phagocytes, Philippe Gros, PhD, of McGill University in Montreal, and colleagues reported online in the New England Journal of Medicine.

A variety of genetic defects that affect the development of other types of immune cells (granulocytes, B cells, and T cells) have been uncovered in individuals with primary immunodeficiency, signaled by infection from weakly infectious invaders like the BCG vaccine against tuberculosis, but the genetic cause remains unknown for many affected individuals, the researchers explained.

Back to news