title: Discoid lupus erythematosus in an X-linked cytochrome-positive carrier of chronic granulomatous disease.
abstract: A 13-year-old female presented with photosensitivity, recurrent aphthous ulcers and discoid lupus erythematosus (DLE)-like skin lesions. These symptoms have been linked to the carrier status of chronic granulomatous disease (CGD). Neutrophil (PMN) function was investigated by nitroblue tetrazolium reduction test and chemiluminescence. A severe impairment of PMN oxidative burst activity was revealed in spite of supranormal levels of cytochrome b245. Glucose-6-phosphate dehydrogenase activity was deficient. Her mother and two sisters also showed reduced PMN function. These findings are consistent with a cytochrome positive X-linked form of CGD with variable lyonization. DLE in association with the carrier status of this CGD variant has not been reported previously.
authors.affiliation: Aberdeen and N.E. Scotland Blood Transfusion Service, Aberdeen Royal Infirmary, Foresterhill, U.K.
authors.forename: G R
authors.initials: GR
authors.lastname: Yeaman
authors.forename: K
authors.initials: K
authors.lastname: Froebel
authors.forename: G
authors.initials: G
authors.lastname: Galea
authors.forename: A
authors.initials: A
authors.lastname: Ormerod
authors.forename: S J
authors.initials: SJ
authors.lastname: Urbaniak
mesh_terms: D000293:Adolescent; D003573:Cytochrome b Group / Q000032:analysis; D005260:Female; D006580:Genetic Carrier Screening; D005955:Glucosephosphate Dehydrogenase Deficiency; D006105:Granulomatous Disease, Chronic / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008163:Luminescent Measurements; D008179:Lupus Erythematosus, Discoid / Q000235:genetics*; D009504:Neutrophils / Q000378:metabolism; D009580:Nitroblue Tetrazolium
chemical_list: D003573:Cytochrome b Group; C035130:cytochrome b245; D009580:Nitroblue Tetrazolium