Higher incidence of autoantibodies in X-linked chronic granulomatous disease carriers: Random X-chromosome inactivation may be related to autoimmunity

The presence of autoantibodies and autoimmune diseases was tested in all av ailable members of five families with at least one member affected with X-l inked chronic granulomatous disease. Patients and carriers relatives posses s autoantibodies more frequently than noncarriers relatives (95% vs 10%, p < 1.0 x 10(-5) Fisher test). Further, a survey of the literature revealed t hat in X-linked immunodeficiencies with X-chromosome random inactivation, c lear features of autoimmunity are observed, not found in those with nonrand om inactivation. It appears then as if random inactivation of the X-chromos ome in these pathologies, may favor the expression of an autoimmune phenoty pe in patients and carriers.