title: Discoid lupus erythematosus-like skin lesions in a patient with autosomal recessive chronic granulomatous disease.
abstract: A case of chronic granulomatous disease (CGD) in a 32-year-old female with two episodes of opportunistic infections is described. At the age of 29 the patient was suspected to be a carrier of X-linked CGD on the basis of discoid lupus erythematosus-like skin lesions. No respiratory burst activity, as measured by phorbol myristate acetate stimulated superoxide production, was observed in isolated neutrophils of the patient. Membrane-rich fractions elicited no superoxide production in the presence of NADPH. The neutrophil content of cytochrome b-245 was within normal range. Family investigations revealed neither cellular abnormalities nor any history of skin diseases or opportunistic infections in first degree relatives. The parents of the patient were first cousins. On the basis of family history and the in-vitro assessment of neutrophil function, the patient is believed to have autosomal recessive CGD. The presented case illustrates that lupus erythematosus-like skin lesions are not restricted to female carriers of X-linked CGD, but may also be found in the autosomal recessive type of the disease.
mesh_terms: D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006105:Granulomatous Disease, Chronic / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008179:Lupus Erythematosus, Discoid / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D009504:Neutrophils / Q000378:metabolism; D010375:Pedigree; D014960:X Chromosome