A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b.
Chronic granulomatous disease was diagnosed in a boy who suffered from severe generalized infections. Family investigations revealed the inheritance of the disease to be X-linked. However, unlike other cases of X-linked chronic granulomatous disease, the membrane oxidase of the neutrophils from this patient was not totally defective and sufficient activity was left to result in a normal phorbol myristate acetate-stimulated nitroblue tetrazolium slide test. Also, unlike the usual findings in X-linked chronic granulomatous disease, cytochrome b was present in normal amounts in the neutrophils from this patient. The cytochrome was normal, judged from its midpoint potential of -245 mV and its ability to bind CO. It is thus apparent that X-linked chronic granulomatous disease may result from at least two different defects and that the phorbol myristate acetate stimulated nitroblue tetrazolium slide test fails to detect some cases.
D000293:Adolescent; D003573:Cytochrome b Group / Q000097:blood*; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000097:blood / Q000235:genetics*; D006601:Hexoses / Q000378:metabolism; D006801:Humans; D008297:Male; D009504:Neutrophils / Q000502:physiology*; D009580:Nitroblue Tetrazolium / Q000378:metabolism*; D010084:Oxidation-Reduction; D010587:Phagocytosis; D012730:Sex Chromosomes; D013778:Tetrazolium Salts / Q000378:metabolism*; D014960:X Chromosome
D003573:Cytochrome b Group; D006601:Hexoses; D013778:Tetrazolium Salts; D009580:Nitroblue Tetrazolium