title: Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology.
abstract: The 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.
authors.affiliation: Immunology Department, Great Ormond Street Hospital for Children, London, UK. calec@gosh.nhs.uk
authors.forename: C M
authors.initials: CM
authors.lastname: Cale
authors.forename: L
authors.initials: L
authors.lastname: Morton
authors.forename: D
authors.initials: D
authors.lastname: Goldblatt
mesh_terms: D000293:Adolescent; D000328:Adult; D000974:Antibodies, Antinuclear / Q000097:blood*; D017152:Antibodies, Antiphospholipid / Q000097:blood; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology; D015415:Biomarkers / Q000097:blood; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000235:genetics* / Q000276:immunology; D006579:Heterozygote; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D011446:Prospective Studies
chemical_list: D000974:Antibodies, Antinuclear; D017152:Antibodies, Antiphospholipid; D015415:Biomarkers