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Abstract
The presence of autoantibodies and autoimmune diseases was tested in all available members of five families with at least one member affected with X-linked chronic granulomatous disease. Patients and carriers relatives possess autoantibodies more frequently than non-carriers relatives (95% vs 10%, p < 1.0 x 10-5, Fisher test). Further, a survey of the literature revealed that in X-linked immunodeficiencies with X-chromosome random inactivation, clear features of autoimmunity are observed, not found in those with non-random inactivation. It appears then as if random inactivation of the X-chromosome in these pathologies, may favor the expression of an autoimmune phenotype in patients and carriers.