Inflammatory and Autoimmune Manifestations in X-linked carriers of Chronic Granulomatous Disease in the United Kingdom

To the Editor: X-linked chronic granulomatous disease (XL-CGD) due to a defect in the nicotinamide adenine dinucleotide phosphate-oxidase (NADPH) oxidase complex subunit gp91phox encoded by CYBB impairs neutrophil respiratory oxidative burst (NROB). XL-CGD female carriers have a dual phagocyte population due to lyonization, with 20% to 80% functioning phagocytes.4 Reports of XL-CGD female carriers with discoid lupus erythematosus, photosensitivity,4 gastrointestinal symptoms, chorioretinitis, and autoimmune phenomena are published.4 We performed a detailed health survey of XL-CGD carriers identified from families known to the UK CGD registry1 and via the CGD Society. Features of SLE (see Table E4 in this article's Online Repository at www.jacionline.org) were compared with a cohort of European patients with SLE.6 Photosensitivity, oral ulcers, Raynaud phenomenon, and arthritis occurred more frequently in carriers than in the reference cohort. Reports of XL-CGD carriers with extreme X-inactivation suffering from inflammatory bowel disease have been published.9 We demonstrate that bowel symptoms are more prevalent than previously recognized although few were investigated. Problem Euro-Lupus cohort, n (%) CGD carrier cohort, n (%) P value Malar rash 311 (31.1) 30 (39) .07 Photosensitivity 229 (22.9) 57 (74)