Chronic Granulomatous Disease; fundamental stages in our understanding of CGD

Abstract

It has been 50 years since chronic granulomatous disease was first reported as a disease which fatally affected the ability of children to survive infections. Various milestone discoveries from the insufficient ability of patients' leucocytes to destroy microbial particles to the underlying genetic predispositions through which the disease is inherited have had important consequences. Longterm antibiotic prophylaxis has helped to fight infections associated with chronic granulomatous disease while the steady progress in bone marrow transplantation and the prospect of gene therapy are hailed as long awaited permanent treatment options. This review unearths the important findings by scientists that have led to our current understanding of the disease.

Figure 1

Schematic representation of the NADPH oxidase enzyme. The integral membrane of the phagocyte consists of two subunits: p22phox and gp91phox which respectively produce the smaller and larger chain of the cytochrome-b₅₅₈. Two cytosolic subunits: p67phox and p47phox; a p40phox accessory protein and a Rac-GTP binding protein then translocate to the cell membrane upon cell activation to form the NADPH oxidase complex which generates a respiratory burst. Superoxide can react to form hydrogen peroxide and hypochlorus acid, which together participate in bacterial killing.