[Identification of carriers of chronic granulomatous disease (author's transl)].
Chronic granulomatous disease is caused by an X chromosome-linked granulocyte function defect whereby the superoxide radical (O2-) and hydrogen peroxide are not formed during phagocytosis. In the course of the investigation of the family of a boy with chronic granulomatosis disease carriers could not be established using the NBT test. Only determination of O2- formation by granulocytes during phagocytosis led to identification of disease carriers. This may possibly represent a means for prenatal diagnosis.
D002648:Child; D005260:Female; D006580:Genetic Carrier Screening; D006098:Granulocytes / Q000378:metabolism; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D008297:Male; D009580:Nitroblue Tetrazolium; D010375:Pedigree; D010587:Phagocytosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013481:Superoxides / Q000378:metabolism
D013481:Superoxides; D009580:Nitroblue Tetrazolium
Identifizierung von Uberträgern der chronischseptischen Granulomatose. Bestimmung der Superoxid-Radikal-Bildung.