Abnormal Nitroblue Tetrazolium Test in Relatives of a Female with Chronic Granulomatous Disease

Abstract

A family is described with a 10-year-old girl suffering from chronic granulomatous disease (CGD), including incapacity of the neutrophilic granulocytes to reduce nitroblue tetrazolium (NBT) in vitro. Her mother and a younger brother have considerably decreased capacities to reduce NBT but are clinically well. Her father and a twin sister to her brother have normal NBT tests. The findings do not conform with the modes of inheritance assumed in previously described cases of CGD. Dominant inheritance with variable expressivity is suggested.