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Chronisch rezidivierende Stomatitis aphthosa bei einer 15jähringen Konduktorin für x-chromosomal vererbte Cytochrom b558-negative septische Granulomatose

Recurrent aphthous stomatitis of a 15-year-old carrier for x-linked cytochrome b558 negative chronic granulomatous disease
: Melter, M.; Rohde, S.; Brodehl, J.; Emmendörffer, A.; Roesler, J.

Monatsschrift für Kinderheilkunde 138 (1990), No.12, pp.811-813
ISSN: 0026-9298
Journal Article
Fraunhofer ITA ( ITEM) ()
Aphthous stomatitis; carrier; Cytochrom B; cytochrome B; Konduktorin; linked chronic granulomatous disease; Stomatitis aphthosa; X-chromosomale septische Granulomatose

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.