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

European Journal of Clinical Investigation
N BorregaardN H Valerius

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. 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.

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Citations

Sep 10, 1987·The New England Journal of Medicine·H L Malech, J I Gallin
Nov 19, 2010·PloS One·Megan N BallingerJoel A Swanson
Feb 4, 2005·The Journal of Pediatrics·Harry OpsimosLeonard R Krilov
Aug 25, 2016·The Journal of Allergy and Clinical Immunology·Otavio Cabral-MarquesAntonio Condino-Neto
Aug 1, 1991·Journal of Paediatrics and Child Health·Y L LauC B Chow
Oct 1, 1988·European Journal of Clinical Investigation·A W Segal

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