Options
1990
Journal Article
Titel
Chronisch rezidivierende Stomatitis aphthosa bei einer 15jähringen Konduktorin für x-chromosomal vererbte Cytochrom b558-negative septische Granulomatose
Alternative
Recurrent aphthous stomatitis of a 15-year-old carrier for x-linked cytochrome b558 negative chronic granulomatous disease
Abstract
A 15-year-old girl, suffering from recurrent stomatitis since the age of 7 years, turned out to be heterozygous for x-linked cytochrome b sub 558 - negative chronic granulomatous disease. Two different populations of neutrophils were found in her peripheral blood: one normal and one cytochrome b sub 558-negative subpopulation which was unable to produce H sub 2 O sub 2. There was no history of chronic granulomatous disease in the maternal family line and the blood from the mother and from the grandmother contained a single normal population of neutrophils only. Therefore a recent mutation in one of the x-chromosomes of maternal or paternal origin is most likely. We wish to emphasize that the possibility of a carrier status for chronic granulomatous disease should be considered if recurrent aphthous stomatitis occurs (especially in context with discoid lupus). An easy flow cytometrical method for H sub 2 O sub 2 measurement on the single cell level is advised as a screening test. Geneti c counselling is a most important consequence of the correct diagnosis.