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lüll Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology Cale CM; Morton L; Goldblatt DClin Exp Immunol 2007[Apr]; 148 (1): 79-84The objective of this study was to determine the utility of anti-nuclear antibody (ANA) testing in the investigation of cutaneous and other lupus symptoms in female carriers of X-linked chronic granulomatous disease (CGD). We undertook a prospective study of 19 carrier mothers attending our institution, with direct questioning of carriers concerning symptoms and testing for anti-nuclear and anti-phospholipid antibodies. A total of 58% reported significant photosensitive skin rashes, 42% reported mouth ulcers and 37% complained of joint pains that could not be attributed to other known causes. Anti-nuclear antibody (ANA) testing was negative in 73% of all carriers. The five positive ANAs were of low titre (maximum 1 : 320 on Hep 2 cells in two women) and only one weak positive double-stranded DNA antibody and no extractable nuclear antibodies were found. Several of the mothers, despite negative serology, benefited from referral to a specialist, and in some cases to specific treatment. A history of skin rashes, joint pain, fatigue and mouth ulcers should be sought actively in the female relatives of X-CGD patients but negative lupus serology should not preclude referral to appropriate dermatology or rheumatology services. as symptoms may respond well to appropriate treatment.|*Heterozygote[MESH]|Adolescent[MESH]|Adult[MESH]|Antibodies, Antinuclear/*blood[MESH]|Antibodies, Antiphospholipid/blood[MESH]|Autoimmune Diseases/genetics/immunology[MESH]|Biomarkers/blood[MESH]|Female[MESH]|Granulomatous Disease, Chronic/*genetics/immunology[MESH]|Humans[MESH]|Lupus Erythematosus, Systemic/*genetics/immunology[MESH]|Middle Aged[MESH]|Prospective Studies[MESH] |