Chronic Granulomatous Disease in Three Siblings

Abstract

A family of 7 persons is described in which one male and two female siblings have chronic granulomatous disease (CGD). The CGD diagnosis was established by histories of recurring infections, typical histopathology, deficient nitroblue tetrazolium (NBT) reduction and deficient neutrophil killing of Staphylococcus aureus. Noteworthy infections were liver abscesses, pneumonia, pleurisy, lymphadenitis, skin pustules, urinary tract infection and dental abscesses. The affected boy was the most severely ill with liver abscesses. One sister also had liver abscesses with Staph. aureus and both were treated with cloxacillin in combination with fucidin and surgical intervention. A survey of the closest relatives with the NBT test disclosed no further cases. In this family the heredity seems to be of the recessive type.