A variant form of X‐linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b

Abstract

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. 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 Nitro Blue Tetrazolium slide test. 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. X-linked chronic granulomatous disease may result from at least 2 different defects, and the phorbol myristate acetate stimulated Nitro Blue Tetrazolium slide test fails to detect some cases.