Chronic granulomatous disease: quantitative clinicopathological relationships

Abstract

10 children with chronic granulomatous disease are described. Though the clinical features were typical, a wide range of clinical severity was noted. A significant correlation between the severity of the syndrome and the qualitative nitro-blue tetrazolium results was found.

Facial rashes (4) and polyarthritis (1) were noted in female presumed heterozygotes, the incidence of which was also related to the nitro-blue tetrazolium test results. A father and a paternal great uncle died of leukaemia. The possible aetiological relation between these and the partial leucocyte abnormality is discussed.

Three children were treated with busulphan, in order to induce neutropenia, to expose the ingested organisms to humoral bactericidal mechanisms, and to antibiotics. There was evidence suggestive of benefit in one of them.