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 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.
Martin-Villa
J M
JM
Inmunologia, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Spain. jmmvilla@eucmax.sim.ucm.es
Corell
A
A
Ramos-Amador
J T
JT
Ruiz-Contreras
J
J
Arnaiz-Villena
A
A
D001323:Autoantibodies / Q000097:blood / Q000235:genetics; D001327:Autoimmune Diseases / Q000097:blood* / Q000453:epidemiology; D002353:Carrier State; D004303:Dosage Compensation, Genetic; D005260:Female; D008040:Genetic Linkage; D006105:Granulomatous Disease, Chronic / Q000235:genetics / Q000276:immunology*; D006801:Humans; D015994:Incidence; D008297:Male
D001323:Autoantibodies